Generated by samhd1_monitor | Model: claude-sonnet-5
Summary: 28 papers evaluated | 2 high-relevance (≥7) | 16 medium (5–6) | 10 low (3–4) | 0 scored <3
Auto-added to Zotero (threshold ≥6)
Hypoxia synergizes cGAS-STING activation and AKT1 phosphorylation to drive pulmonary inflammation in one-lung ventilation: therapeutic attenuation by RU.521 and MK2206 (from Pulmonology/anesthesiology (one-lung ventilation, acute lung injury))
Jiangsheng Zhang; Yuntao Zou; Dongni Chen; Jiayang Fan; Biying Men — Journal of Inflammation (London, England) 2026
Score: 7/10 | Pathways: cGAS-STING, NF-kB-IKK, treatment-target
Demonstrates cGAS-STING activation via mitochondrial/DNA damage under hypoxic stress, with AKT1-TBK1-IRF3-NF-κB signaling and pharmacological inhibition (RU.521/MK2206), directly modeling the BLUE-stream mechanism and NF-κB crosstalk relevant to the interferon-mitochondrial syndrome, though not SAMHD1-specific.
DOI: 10.1186/s12950-026-00498-6
STING inhibition and BD1-selective BET blockade limit ischemia-reperfusion-induced hepatic tissue remodeling by suppressing pro-inflammasome signaling. (from Hepatology/surgery (ischemia-reperfusion injury))
Adel I. Alalawy; Rabab S. Hamad; Abdulrahman Alasmari; Rehab F. Al-Massabi; Yasm — Tissue & cell 2026
Score: 7/10 | Pathways: cGAS-STING, NLRP3, NF-kB-IKK, NF-kB-NLRP3-priming, mito-ROS-NF-kB, treatment-target
This paper demonstrates cGAS-STING/mtDNA-driven NF-κB and inflammasome activation converging on a druggable checkpoint (STING inhibitor + BET/BRD4 inhibitor), directly paralleling the BLUE/PURPLE loops and NF-κB priming axis in the SAMHD1 mechanism, and implicates hepatology as a relevant clinical bridge.
DOI: 10.1016/j.tice.2026.103387
Score ≥6 auto-added to Zotero; lower scores: review manually
Glucocorticoids-Driven Mitochondrial GR Translocation Promotes Heat Stress-Induced Mastitis via the mtDNA-cGAS-STING-NF-κB/NLRP3 Pathway. (from veterinary medicine/dairy science)
He Yuhong; Zhou Zeming; Wei Xin; Su Nier; Yang Tingting — Free radical biology & medicine 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, NF-kB-IKK, mito-ROS-NF-kB, other
This veterinary study demonstrates mtDNA release triggering cGAS-STING-NF-κB/NLRP3 inflammatory activation via mitochondrial GR translocation, mechanistically paralleling the BLUE/PURPLE loops and NF-κB-NLRP3 crosstalk in the SAMHD1 disease model despite a different upstream trigger (heat stress/glucocorticoids vs. dNTPase deficiency).
DOI: 10.1016/j.freeradbiomed.2026.07.013
Ajugol attenuates acute gouty arthritis by enhancing mitophagy to suppress chondrocyte pyroptosis. (from Rheumatology/pharmacognosy (gouty arthritis and traditional medicine compound screening))
Zhang Yang; Liu Yi; Xie Weiping; Fu Yingqiang; Liu Zhonghao — Biochimica et biophysica acta. Molecular basis of disease 2026
Score: 6/10 | Pathways: NLRP3, urate-NLRP3, mTOR-lysosomal, treatment-target
This paper demonstrates MSU crystal-induced NLRP3 activation and pyroptosis via PINK1/Parkin mitophagy blockade and PI3K/AKT/mTOR signaling, directly paralleling the GOLD stream (dGTP→uric acid→MSU→NLRP3) and mitophagy dysfunction mechanisms in the SAMHD1 model, with a natural compound therapeutic angle.
DOI: 10.1016/j.bbadis.2026.168320
The role of mitochondrial proteases in inflammation and immunity. (from Mitochondrial biology/protein quality control)
Ferreira Anna Rebeka Oliveira; Day Emily A — 2026
Score: 6/10 | Pathways: NLRP3, mito-ROS-NF-kB, treatment-target, other
This review on mitochondrial protein quality control proteases (CLPXP, LONP1, OMA1, AAA-proteases) and their roles in ROS production, mtDNA damage signals, and NLRP3/inflammatory pathway regulation is mechanistically adjacent to the ox-mtDNA/NLRP3/mito-ROS-NF-kB axes central to the SAMHD1 interferon-mitochondrial syndrome, though it does not address SAMHD1, cGAS-STING, or ISG15 directly.
DOI: 10.3389/fimmu.2026.1761658
Lower mitochondrial DNA abundance in blood cells is associated with higher general morbidity and all-cause mortality: a 30-year prospective epidemiological study (from epidemiology/preventive medicine)
A. Sébe; J. Lautaoja-Kivipelto; J. Jokelainen; J. Vaananen; S. Skarp — 2026
Score: 6/10 | Pathways: POLG-mtDNA, NLRP3, treatment-target, clinical-phenotype
Low blood mtDNA abundance linked to chronic low-grade inflammation/innate immunity and all-cause mortality supports the mechanistic link between mitochondrial dysfunction (ox-mtDNA, POLG stalling, NLRP3 priming) and systemic morbidity relevant to the SAMHD1 interferon-mitochondrial syndrome, though it lacks any direct SAMHD1 or cGAS-STING mechanistic data.
DOI: 10.64898/2026.02.10.26345983
Metabolic control of immunity and inflammation: Mitochondrial dynamics, pharmacological targets, and therapeutic opportunities. (from immunometabolism/pharmacology)
Chunling Wang; Wangzheqi Zhang; Yue Shu; Lizhou Song; Yiwen Wan — Pharmacological research 2026
Score: 6/10 | Pathways: NLRP3, mito-ROS-NF-kB, treatment-target, other
This broad review on mitochondrial dynamics in immunometabolism and inflammation touches generally on mitochondria-ROS-NLRP3-NF-kB crosstalk relevant to the mitochondrial-interferon convergence mechanism but lacks specific SAMHD1, cGAS-STING, or dNTP pathway detail.
DOI: 10.1016/j.phrs.2026.108194
Glycosylation as a dynamic regulator of RLR and cGAS-STING innate immune signalling pathways (from Glycobiology)
Jie Tong; Wuchao Zhang; Mengzhou Xue; Chunfu Zheng — Communications Biology 2026
Score: 6/10 | Pathways: cGAS-STING, NF-kB-IKK, treatment-target
Reviews glycosylation-based regulation of STING stability and cGAS-DNA binding/IRF3/NF-κB signaling, mechanistically upstream of the BLUE/RED loops central to this SAMHD1 interferonopathy model and pointing to novel enzymatic drug targets.
DOI: 10.1038/s42003-026-09767-9
Electroacupuncture Attenuates Neuroinflammation and Postoperative Cognitive Dysfunction in Aged Rats by Suppressing the cGAS–STING Pathway (from Anesthesiology/Neurology (acupuncture and postoperative cognitive dysfunction))
Baobao Ma; Shiwen Fan; Jiaojiao Deng; Kaihua Wei; Yan Li — Experimental Neurobiology 2026
Score: 6/10 | Pathways: cGAS-STING, NF-kB-IKK, treatment-target
Demonstrates cGAS-STING-NF-kB-IL-1β neuroinflammatory axis activation and pharmacological/non-pharmacological suppression in a rodent model, mechanistically relevant to the IFN-mitochondrial pathway though not SAMHD1-specific and in a different (surgical/neuroinflammation) context.
DOI: 10.5607/en25042
Targeting VPS4 elicits STING-driven anti-tumor immunity to suppress rhabdomyosarcoma growth (from Oncology (rhabdomyosarcoma tumor immunology/ESCRT biology))
Ray Zhang; Longgui Chen; Xinwen Liang; Jiawen Zhang; Kouta Hamamoto — Oncogene 2026
Score: 6/10 | Pathways: cGAS-STING, NF-kB-IKK, treatment-target, other
Demonstrates cytoplasmic mtDNA-driven cGAS-STING-TBK1-IRF3 activation and NF-κB induction upon VPS4 inhibition, mechanistically paralleling the BLUE loop (VDAC1/mtDNA release to cGAS-STING) and its NF-κB crosstalk, though in an oncology rather than SAMHD1 context.
DOI: 10.1038/s41388-026-03800-1
Bridging innate immunity and iron-dependent death: the interplay between cyclic GMP–AMP synthase–stimulator of interferon genes nexus and ferroptosis in cancer and inflammation (from oncology/cell death biology)
Xin-Xin Chen; Yunxuan Hou; Xinxin Chen; Qi Zhou; Xiang Wang — Frontiers in Cell and Developmental Biology 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, treatment-target
Reviews cGAS-STING pathway crosstalk with ferroptosis and NF-κB, relevant to core interferon-mitochondrial mechanism though focused on cancer/ferroptosis rather than SAMHD1-specific biology.
DOI: 10.3389/fcell.2026.1766502
Non-genotoxic transplantation and in vivo selection through epitope editing. (from hematology/gene therapy)
Casirati Gabriele; Cosentino Andrea; Freschi Marta; Zeng Jing; Mucci Adele — Nature 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
This paper describes base/prime editing and epitope-editing strategies for HSPC transplantation and hemoglobinopathy correction, representing a relevant gene-editing delivery advance in myeloid/immune progenitor cells but not directly addressing SAMHD1 or interferon-mitochondrial pathways.
DOI: 10.1038/s41586-026-10737-8
Spiperone targets HBV cccDNA via ER stress–induced innate immune activation and epigenetic silencing (from Hepatology/virology (antiviral drug repurposing for chronic hepatitis B))
Junghwa Jang; Ziyun Kim; Eunseo Kim; Jisung Park; Yulim Choi — bioRxiv 2026
Score: 5/10 | Pathways: cGAS-STING, treatment-target
This paper demonstrates a mechanistically analogous pathway (mitochondrial stress → oxidized mtDNA release → IFI16-STING-IRF3 → type I IFN) to the BLUE loop in the SAMHD1 model, but in an antiviral HBV context unrelated to SAMHD1 dysfunction.
DOI: 10.64898/2026.03.31.715751
β-catenin-driven innate and metabolic reprograming in macrophages fuel T-cell-dependent inflammation in Toxoplasma gondii infection: implications for therapeutic intervention (from Parasitology/Infectious Disease Immunology)
G. Kumari; Amit Kumar; Rasmiranjan Muduli; Mayami Das; Prithwik Bhowmik — Cell Death & Disease 2026
Score: 5/10 | Pathways: NLRP3, POLG-mtDNA, ISG15-mitophagy, mito-ROS-NF-kB
This paper demonstrates ox-mtDNA acting as a HAMP to activate AIM2-NLRP3 inflammasome via mitochondrial ROS and PINK1/PARKIN mitophagy in macrophages—mechanistically parallel to the ox-mtDNA/NLRP3 and mitophagy-block streams in the SAMHD1 model, though in a Toxoplasma infection context rather than SAMHD1 dysfunction.
DOI: 10.1038/s41419-026-08953-1
Innate Immune Recognition During RNA Virus Infection: Molecular Mechanisms —A Review (from Virology/microbiology)
Ruqaya Munther Jalil Ewadh; Noor Hassan Ali Altaie; Saif Jabbar Yasir — Journal of Progressive Medical Sciences 2026
Score: 5/10 | Pathways: cGAS-STING, NF-kB-IKK, other
This general review of innate antiviral sensing (RLR/TLR/NLR, MAVS, IRF3/7, NF-κB, cGAS-STING, inflammasome) covers upstream mechanisms relevant to the IFN-I and NF-κB priming loops implicated in the SAMHD1 A565T syndrome, but contains no SAMHD1-, VDAC1-, or ISG15-specific data and is not disease-specific.
DOI: 10.63939/wfh43b42
IFI16 senses and protects stalled replication forks. (from DNA damage/genome instability and cancer biology (oncology/molecular biology))
A. Gamble; Thomas A. Ward; Otto P G Wheeler; Jessica P. Morris; Caryl M Jones — Molecular cell 2026
Score: 5/10 | Pathways: cGAS-STING, NF-kB-IKK
Describes a cGAS-independent STING→NF-κB inflammatory pathway triggered by replication stress, paralleling the STING/NEMO-NF-κB crosstalk axis relevant to the interferonopathy mechanism though not SAMHD1-specific.
DOI: 10.1016/j.molcel.2025.12.024
RNA-LNP-mediated in vivo prime editing corrects disease phenotypes in a mouse model of citrullinemia type I. (from Gene therapy / genetic medicine (metabolic liver disease))
András Tálas; Eleonora I. Ioannidi; Yanik Weber; Tatjana Haenggi; P. Kulcsár — Science translational medicine 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
This paper demonstrates in vivo RNA-LNP prime editing correction of a monogenic liver disease, providing a relevant technical precedent for future correction of the heterozygous SAMHD1 A565T missense variant, though it is unrelated to interferon/mitochondrial pathways or hepatocyte (not myeloid/immune) delivery.
DOI: 10.1126/scitranslmed.aec7274
CD117 epitope-shielded hematopoietic stem cell transplantation with toxin-free conditioning and in vivo selection ameliorates β-thalassemia model (from hematology/gene therapy)
Marone Romina; Lepore Rosalba; Paschoudi Kiriaki; Zuin Jessica; Sinopoli Alessan — preprint (preprint) 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
This paper demonstrates prime editing of human CD34+ HSPCs for epitope engineering to enable toxin-free conditioning, relevant as a myeloid-cell gene correction delivery advance that could inform future SAMHD1 A565T correction strategies but has no direct disease mechanism overlap.
DOI: 10.64898/2026.07.07.736903
Potential specialty bridges — skim titles
The neuroprotective effect of eugenol in aluminum chloride-induced Alzheimer's rats: Insights into the role of TLR4/MyD88/NF-kB and NLRP3 inflammasome/gasdermin D signaling pathways. (from Neurology/pharmacology (natural product neuroprotection in toxin-induced neurodegeneration model))
El-Dory Shahenda T; Abd El-Fattah Amal A; Sadik Nermin Abdel Hamid; Elbaz Eman M — Archives of biochemistry and biophysics 2026
Score: 4/10 | Pathways: NLRP3, NF-kB-NLRP3-priming
This is an unrelated toxin-induced Alzheimer's rat model using a natural compound (eugenol) that touches on TLR4/MyD88/NF-kB and NLRP3/GSDMD signaling, which overlaps thematically with the NF-κB-NLRP3 priming axis in the disease profile but has no connection to SAMHD1, interferon signaling, or mitochondrial dNTP mechanisms.
DOI: 10.1016/j.abb.2026.110885
Mechanisms and biomarkers of immune checkpoint inhibitor-associated myocarditis: from T cell imbalance to multicellular crosstalk (from Cardio-oncology/immunotherapy toxicity)
Jiawang Huang; Xiuli Xu; Yucheng Jin; Liping Qiao; Heng Yu — Frontiers in Immunology 2026
Score: 4/10 | Pathways: cGAS-STING, NF-kB-IKK, treatment-target
The paper implicates cGAS-STING and STAT1/NF-κB-driven macrophage polarization in ICI-myocarditis, overlapping mechanistically with the interferon-NF-κB axis but in an unrelated oncologic/autoimmune cardiotoxicity context rather than SAMHD1 biology.
DOI: 10.3389/fimmu.2026.1752354
Ligustilide activates cGAS-STING to chemoprevent tobacco carcinogen-induced lung tumorigenesis. (from Oncology/pulmonology and traditional Chinese medicine pharmacology)
Caisheng Huang; Yanni Tian; Yonghu Chen; Yijia Su; Qiang Fu — International immunopharmacology 2026
Score: 4/10 | Pathways: cGAS-STING, NF-kB-IKK, treatment-target
This paper demonstrates cGAS-STING pathway activation (via TBK1-IRF3/NF-κB) as a chemopreventive mechanism in tobacco-induced lung cancer, sharing core pathway machinery with the SAMHD1 syndrome but in an unrelated oncologic/pharmacologic context with no SAMHD1 or mitochondrial dNTP connection.
DOI: 10.1016/j.intimp.2026.117043
Co-exposure to cannabinoids and nicotine increases senescence in prenatal human lung development. (from Pediatric pulmonology/prenatal toxicology)
El Alam Imad; Belgacemi Randa; Hoarau Antony; Le Saux Claude Jourdan; Glass Ian — Pediatric research 2026
Score: 3/10 | Pathways: pregnancy-fetal, other
Paper shows DNA damage-induced senescence with secondary interferon pathway activation (MX1/IFI2) and SASP in fetal lung explants, a tangential mechanistic parallel to the interferon-mitochondrial axis but not involving SAMHD1, cGAS-STING, NLRP3, or the core disease pathways.
DOI: 10.1038/s41390-026-05037-w
CRISPR Cas9 revolutionizing genetic engineering and therapeutic applications. (from biotechnology/genetic engineering)
Durairaj Sivakumar; Durairaj Shankar; Krishnan Sundar; Raju Anand — Journal of biotechnology 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
General CRISPR-Cas9 review covering broad therapeutic applications with only superficial mention of base/prime editing, lacking any SAMHD1, interferonopathy, or immune-cell-specific delivery focus relevant to this disease profile.
DOI: 10.1016/j.jbiotec.2026.06.012
Orchestrating the gut microbiota–mitochondrial–immune axis in gynecological diseases: mechanisms and dual-targeting therapeutic strategies (from Gynecology/gut microbiota research)
Haixia Tang; Yiting Zhang; Yanting Wang; Ze Zhou; Rong Sun — Frontiers in Reproductive Health 2026
Score: 3/10 | Pathways: cGAS-STING, NLRP3, other
This gynecology-focused review touches cGAS-STING/NLRP3 and mitochondrial pathways generically via gut microbiota axis, but has no connection to SAMHD1, interferonopathy mechanism, or family phenotypes.
DOI: 10.3389/frph.2026.1845581
NF-κB signaling in osteoarthritis: integrating mechanical stress, innate immunity, and cartilage degeneration (from Orthopedics/Rheumatology (osteoarthritis))
Peng Wan; Yimin Zheng — Frontiers in Immunology 2026
Score: 3/10 | Pathways: NF-kB-IKK, other
This is a general osteoarthritis review on NF-κB integrating mechanical stress and innate immunity, mentioning mitochondrial DNA sensing and DAMPs but with no connection to SAMHD1, cGAS-STING/NLRP3 interferonopathy mechanisms, or any documented family phenotype.
DOI: 10.3389/fimmu.2026.1842443
Zinc-Iron Bimetallic MOF-Integrated Thermosensitive Hydrogel for Breast Cancer Immunotherapy
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Ferroptosis-Induced cGAS–STING Activation (from Oncology/Biomaterials engineering)
Yihao Zhan; Xiangyan Chen; Yantao Li — BIO Web of Conferences 2026
Score: 3/10 | Pathways: cGAS-STING, other
While it engages the cGAS-STING pathway, this is an engineered nanomaterial oncology therapeutic for breast cancer immunotherapy unrelated to SAMHD1 mechanism, mitochondrial dNTP dysregulation, or the interferon-mitochondrial syndrome described.
DOI: 10.1051/bioconf/202623703015
Microbial dysbiosis drives colorectal carcinogenesis via integrated inflammatory, metabolic, and biofilm pathways (from Gastroenterology/Oncology (microbiome-driven colorectal carcinogenesis))
Asma Bachir; A. Altaie; Riyad Bendardaf; Iman M. Talaat; R. Hamoudi — Frontiers in Microbiology 2026
Score: 3/10 | Pathways: cGAS-STING, NF-kB-IKK, other
This paper discusses cGAS-STING and NF-κB signaling in the context of colorectal cancer driven by microbial dysbiosis, sharing pathway components but in an unrelated disease mechanism (bacterial genotoxicity, not SAMHD1 dNTPase dysfunction or interferonopathy syndrome).
DOI: 10.3389/fmicb.2026.1795882
Abstract PS4-04-18: Direct targeting of amplified HER2 gene activates immune signaling through DNA damage response (from Oncology (breast cancer therapeutics))
A. Krysztofiak; A. Brown; A. Minnah; F. Rogers — Clinical Cancer Research 2026
Score: 3/10 | Pathways: cGAS-STING
Discusses cGAS-STING activation via DNA damage in HER2+ breast cancer, tangentially touching a core pathway but unrelated to SAMHD1 mechanism or family phenotypes.
DOI: 10.1158/1557-3265.sabcs25-ps4-04-18
cGAS-STING: 16 paperstreatment-target: 13 papersNF-kB-IKK: 12 papersNLRP3: 10 papersother: 10 papersmito-ROS-NF-kB: 5 papersprime-editing: 4 papersgene-therapy-delivery: 4 papersNF-kB-NLRP3-priming: 2 papersPOLG-mtDNA: 2 papersurate-NLRP3: 1 papersmTOR-lysosomal: 1 papersclinical-phenotype: 1 papersISG15-mitophagy: 1 paperspregnancy-fetal: 1 papers
Summary: 111 new papers | 14 high-relevance (≥7) | 45 medium (5–6) | 52 low (3–4)
cGAS inhibitor IMSB301 modifies interferon signalling in peripheral mononuclear cells of SAMHD1 genetic interferonopathy in vitro (from Clinical immunology/translational rare disease genetics (AGS))
V. Han; J. Hayes; Lijun Sun; Teresa Mooneyham; Michelle Lorentzos — Clinical & Translational Immunology 2026
Score: 9/10 | Pathways: cGAS-STING, JAK-STAT, AGS-spectrum, treatment-target, clinical-phenotype
Directly demonstrates SAMHD1-mutation-driven interferon signature (IFIT1/IFIT3/IFI44L/ISG15/OAS1) and its reversal by the cGAS inhibitor IMSB301, a named therapeutic candidate in the mechanism list, providing direct in vitro validation of the BLUE loop and a druggable target for SAMHD1 interferonopathy.
DOI: 10.1002/cti2.70090
One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood (from Pediatric rheumatology)
Hulya Ercan Emreol; Dilara Ünal; D. Ayvaz; Y. Bilginer; S. Özen — Rheumatology (Oxford, England) 2026
Score: 9/10 | Pathways: AGS-spectrum, JAK-STAT, cGAS-STING, clinical-phenotype, treatment-target
Directly demonstrates SAMHD1 loss-of-function mutation causing a spectrum of interferonopathy phenotypes (myopathy, panniculitis, lupus-like disease) responsive to JAK inhibition, reinforcing the core interferon-driven mechanism and phenotypic heterogeneity relevant to the family's diverse presentations.
DOI: 10.1093/rheumatology/keaf695
Self-assembled nanoparticles from Xiexin Decoction attenuate ulcerative colitis by targeting VDAC1-Mediated NLRP3 inflammasome activation (from gastroenterology/nanomedicine (traditional Chinese medicine-derived nanotherapeutics for ulcerative colitis))
Zheng Chu; Tong Yang; Ying Zhang; Qianru Zhu; Dawei Wang — Materials Today Bio 2026
Score: 7/10 | Pathways: VDAC1, NLRP3, treatment-target
Demonstrates that VDAC1 oligomerization inhibition blocks oxidized mtDNA release and NLRP3 activation, directly validating the BLUE pathway mechanism and identifying a druggable VDAC1-targeting compound (berberine) relevant to the family's inflammasome-driven phenotype.
DOI: 10.1016/j.mtbio.2026.103078
Mitochondrial DNA drives NLRP3-IL-1β axis activation in microglia by binding to NLRP3, leading to neurodegeneration in Parkinson’s disease models (from Neurology/Parkinson's disease research)
Qinglin Gan; Xiaolong Fu; T. Zhou; Naiyu Fan; Nan Nan — Cell Death & Disease 2026
Score: 7/10 | Pathways: NLRP3, POLG-mtDNA, treatment-target
Demonstrates ox-mtDNA directly binding and activating NLRP3 in microglia (Loop B mechanism), reinforcing the PURPLE/NLRP3 pathway with a novel molecular mechanism relevant to neuroinflammation, though not SAMHD1-specific.
DOI: 10.1038/s41419-026-08424-7
Mitochondrial DNA efflux as a potential amplifier of systemic inflammatory network rewiring in heart failure with preserved ejection fraction (from Cardiology (HFpEF))
Xingwei Zhao; Shengyu Huang; Qiuling Li; Yang Yu; Chunxiang Zhang — Frontiers in Immunology 2026
Score: 7/10 | Pathways: cGAS-STING, NLRP3, NF-kB-NLRP3-priming, clinical-phenotype, other
Describes mtDNA release-driven cGAS-STING/TLR9-NLRP3 inflammatory amplification loops closely mirroring the BLUE/Loop A/B mechanisms, relevant to potential cardiac comorbidity in the interferon-mitochondrial syndrome though not SAMHD1-specific.
DOI: 10.3389/fimmu.2026.1866184
Oxidized mtDNA Contributes to Pulmonary Inflammation and Fibrosis in Bleomycin‐Induced Lung Injury (from Pulmonology)
Ye Mao; Xinyu Tian; Jiayuan Ai; Xiaoting Zhou; Yanghong Ni — MedComm 2026
Score: 7/10 | Pathways: cGAS-STING, NLRP3, POLG-mtDNA, treatment-target
Demonstrates oxidized mtDNA driving STING- and NLRP3-dependent inflammation and fibrosis, directly validating the PURPLE/BLUE convergent mechanism (ox-mtDNA -> cGAS-STING and NLRP3) central to the SAMHD1 interferon-mitochondrial syndrome, though in a lung fibrosis model rather than SAMHD1 context.
DOI: 10.1002/mco2.70664
The Autophagy–Inflammation Axis in Kawasaki Disease: Pathogenic Mechanisms and Translational Opportunities (from Pediatric cardiology/rheumatology (Kawasaki disease vasculopathy))
Qiang Xu; Yali Wu; Yan Ding — Journal of Clinical Medicine 2026
Score: 7/10 | Pathways: cGAS-STING, NLRP3, mTOR-lysosomal, treatment-target
Describes mitophagy/lysosomal dysfunction driving mtDNA release, NLRP3 and cGAS-STING activation in a pediatric vasculitis, directly paralleling the family's mitochondrial-interferon-inflammasome mechanism and mTOR/rapamycin therapeutic angle.
DOI: 10.3390/jcm15103918
Mitochondrial Calcium Overload Drives mtDNA-cGAS-STING Activation via VDAC1 and MCU Upregulation in Periodontitis (from Dentistry/Periodontology)
Xinyi Cheng; Yu Cai; Yiran Geng; Xiaoying Zang; Jia Liu — International Journal of Molecular Sciences 2026
Score: 7/10 | Pathways: cGAS-STING, VDAC1, treatment-target
This paper mechanistically validates the VDAC1-mediated mtDNA leakage → cGAS-STING activation axis (Loop A/BLUE pathway) central to the SAMHD1 syndrome model, even though studied in a different inflammatory disease context.
DOI: 10.3390/ijms27104317
Less severe alcoholic injury in cyclic guanosine monophosphate-adenosine monophosphate synthase (cGAS) deficient mice, a possible impact of intracellular DNA recognition. (from Hepatology/alcoholic liver disease)
T. Bhunyakarnjanarat; Chatsuree Suksamai; Kollawat Somsri; Kamollada Kowitwibool — International immunopharmacology 2026
Score: 7/10 | Pathways: cGAS-STING, NLRP3, NF-kB-IKK, mito-ROS-NF-kB, treatment-target
Demonstrates cGAS-dependent cytosolic mtDNA sensing driving NF-κB/IL-1β inflammation and mitochondrial oxidative injury in a liver disease model, directly reinforcing the BLUE-pathway mechanism (VDAC1/mtDNA-cGAS-STING) central to the SAMHD1 interferon-mitochondrial syndrome and its hepatology relevance to the family's hepatic steatosis phenotype.
DOI: 10.1016/j.intimp.2026.116875
Lead exposure acts as a risk factor of PCOS development via SOD2-mediated mtDNA leakage. (from Reproductive endocrinology/toxicology)
Qiao-ling Zhang; Yinfei Xing; Shijie Li; Zhanqing Yang; Baiyu Li — Chemico-biological interactions 2026
Score: 7/10 | Pathways: cGAS-STING, NF-kB-IKK, mito-ROS-NF-kB, treatment-target
This paper demonstrates mtDNA leakage via permeability transition pore triggering cGAS-STING-TBK1-NF-κB signaling driven by mitochondrial oxidative stress, closely paralleling the BLUE/NF-κB crosstalk mechanisms central to the SAMHD1 syndrome despite a different upstream trigger (lead exposure) and disease context (PCOS).
DOI: 10.1016/j.cbi.2026.112075
Interferon-alpha selectively signals mitochondrial pore opening to allow mitochondrial RNA release in systemic lupus erythematosus: pathophysiological implications (from Rheumatology (SLE))
Chuan-Yueh Huang; De-Wei Wu; L. Hung; Chien-Hsiang Wu; Shue-Fen Luo — Cell Communication and Signaling : CCS 2026
Score: 7/10 | Pathways: VDAC1, cGAS-STING, IRF7-metabolic, clinical-phenotype
Demonstrates IFN-alpha-driven VDAC1-mediated mitochondrial pore opening and nucleic acid (mtRNA) release in macrophages, directly paralleling the BLUE loop VDAC1/cGAS-STING mechanism central to the SAMHD1 interferonopathy model, though in an SLE rather than SAMHD1 context.
DOI: 10.1186/s12964-026-02910-3
Janus Kinase Inhibitors in Treatment of Primary Immune Regulatory Disorders. (from Clinical allergy/immunology (JAK inhibitor therapeutics for inborn errors of immunity))
N. Alsaati; L. Satter — The journal of allergy and clinical immunology. In practice 2026
Score: 7/10 | Pathways: JAK-STAT, treatment-target, AGS-spectrum, clinical-phenotype
Reviews JAK inhibitor use in type I interferonopathies and immune dysregulation disorders, directly relevant as a therapeutic strategy applicable to the IFN-I-driven SAMHD1 haploinsufficiency syndrome described.
DOI: 10.1016/j.jaip.2026.05.019
Beyond the interferon score: neurofilament light chain and glial fibrillary acidic protein capture immune-mediated neuroinjury and response to JAK inhibition in Aicardi–Goutières syndrome (from Neurology/biomarker science)
L. Wege; Christian Klemann; Sandy Siegert; Annette E Bley; S. Koss — Frontiers in Immunology 2026
Score: 7/10 | Pathways: AGS-spectrum, JAK-STAT, treatment-target, clinical-phenotype
AGS is the core type I interferonopathy prototype in the SAMHD1 mechanistic spectrum, and this paper demonstrates JAK inhibitor efficacy on neuroinjury biomarkers (pNfL/pGFAP) that outperform IFN score, directly relevant to treatment monitoring strategies applicable to SAMHD1-driven interferonopathy.
DOI: 10.3389/fimmu.2026.1782352
Intranasal Human NSC‐Derived EVs Therapy Can Restrain Inflammatory Microglial Transcriptome, and NLRP3 and cGAS‐STING Signalling, in Aged Hippocampus (from Neuroscience/regenerative medicine (stem cell-derived extracellular vesicle therapeutics for neuroinflammaging))
L. N. Madhu; Maheedhar Kodali; Shama Rao; Sahithi Attaluri; Raghavendra Upadhya — Journal of Extracellular Vesicles 2026
Score: 7/10 | Pathways: cGAS-STING, NLRP3, JAK-STAT, treatment-target, NF-kB-NLRP3-priming
This paper demonstrates a therapeutic EV-based approach that suppresses NLRP3 inflammasome and cGAS-STING-IFN-1 signaling via specific miRNAs, directly relevant to the convergent interferon-inflammasome mechanism underlying the SAMHD1 syndrome even though it is in an aging-neuroinflammation rather than SAMHD1 context.
DOI: 10.1002/jev2.70232
Mitochondrial Regulation of the NLRP3 Inflammasome in Diabetic Kidney Disease: From Mechanisms to Therapeutic Strategies (from Nephrology/Endocrinology)
Xiangyun Chen; Zhenyu Wu; Kaiyan Yu; Juan Zhang; Hongjie Di — International Journal of Molecular Sciences 2026
Score: 6/10 | Pathways: NLRP3, mito-ROS-NF-kB, treatment-target
Reviews mitochondrial ROS/ox-mtDNA-driven NLRP3 activation as a core mechanistic parallel to Loop B/mito-ROS-NF-kB axes, though contextualized in diabetic kidney disease rather than SAMHD1 interferonopathy.
DOI: 10.3390/ijms27114819
Icariin attenuates diabetic cardiomyopathy by inhibiting NLRP3 inflammasome through SIRT3-mediated TFAM deacetylation (from Cardiology/pharmacology)
Mingsheng Sun; Hui Huang; Chao Wei; Yuan Xing; Bing Wu — Frontiers in Pharmacology 2026
Score: 6/10 | Pathways: NLRP3, mito-ROS-NF-kB, treatment-target
Demonstrates mtROS/cytosolic mtDNA-driven NLRP3 activation in cardiomyopathy and its pharmacological reversal via SIRT3-TFAM, paralleling the PURPLE/mito-ROS-NF-kB loop implicated in the SAMHD1 syndrome's cardiac and mitochondrial pathology.
DOI: 10.3389/fphar.2026.1829772
PPARG activation by pioglitazone promotes mitophagy and inhibits the NLRP3 inflammasome to alleviate arthritic joint inflammation and bone damage. (from Rheumatology/endocrinology (thiazolidinedione repurposing for RA-T2DM multimorbidity))
Tingting Fu; Yanglin Wu; Bo Wang; Qin Zhang; Lujun Guo — Autophagy 2026
Score: 6/10 | Pathways: NLRP3, ISG15-mitophagy, treatment-target, clinical-phenotype
Demonstrates that mitophagy induction (via PPARG) suppresses NLRP3 inflammasome activation and IL1B/IL18 release in arthritis, directly relevant to the family's RA phenotype and the mitophagy-block/NLRP3 axis central to the SAMHD1 syndrome, though it does not involve interferon or SAMHD1 mechanisms.
DOI: 10.1080/15548627.2026.2676071
Mitochondrial Dysfunction in the Inflammatory Process of Neurodegenerative Diseases (from Neurodegeneration/mitochondrial bioenergetics)
Salvatore Nesci — Biomedicines 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, POLG-mtDNA, treatment-target
Reviews mtDNA-driven ROS/cGAS-STING/NLRP3 neuroinflammatory crosstalk analogous to the PURPLE/BLUE loops but centers on ETC supercomplex biology in neurodegeneration rather than SAMHD1 dNTPase mechanism.
DOI: 10.3390/biomedicines14030682
Mitochondrial dysregulation in rheumatoid arthritis: From pathogenic mechanisms to therapeutic innovations. (from Rheumatology)
Ao Wang; Tiangang Ma; Jinyan Yu; Yanbing Hu; Xin Di — International immunopharmacology 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, treatment-target, clinical-phenotype
Reviews mitochondrial dysfunction driving NLRP3/cGAS-STING activation in rheumatoid arthritis, directly relevant to the family's RA phenotype and the interferon-mitochondrial mechanism, though not SAMHD1-specific.
DOI: 10.1016/j.intimp.2026.116622
Subthreshold Thermal Stress Aggravates Methamphetamine-Induced Cardiomyocyte Pyroptosis via the Mitochondrial ROS/BAX/mtDNA/NLRP3 Pathway (from toxicology/cardiology (methamphetamine-induced cardiotoxicity))
Mengmeng Wang; Cong-Cong Hou; Mengliang Hu; Dan Zhou; Xintao Wang — International Journal of Molecular Sciences 2026
Score: 6/10 | Pathways: NLRP3, mito-ROS-NF-kB, treatment-target
Demonstrates a mitochondrial ROS/BAX/mtDNA-driven NLRP3 inflammasome activation pathway causing pyroptosis, directly paralleling the disease's ox-mtDNA/NLRP3 mechanism and mitochondrial-targeted antioxidant therapeutic strategy, though in a toxicology rather than SAMHD1 context.
DOI: 10.3390/ijms27115000
Ag2Se quantum dots neurotoxicity: mitochondrial stress drives ferroptosis-dependent microglial inflammation (from nanotoxicology/environmental health)
Yongshuai Yao; Zhihui Wang; Chunhui Zhang; Xiaoquan Huang; T. Wei — Journal of Nanobiotechnology 2026
Score: 6/10 | Pathways: NLRP3, cGAS-STING, mito-ROS-NF-kB
This nanotoxicology paper demonstrates mtROS-mPTP-mtDNA leakage-STING-NLRP3 ferroptosis axis, mechanistically paralleling the BLUE/PURPLE loop convergence on NLRP3 via mitochondrial damage even though triggered by quantum dots rather than SAMHD1 deficiency.
DOI: 10.1186/s12951-026-04322-4
The mitochondrial logic of inflammaging: how energy imbalance drives fibroblast SASP and tissue-specific aging (from Dental/periodontal biology and aging/senescence research)
Yu Huan; Qiqi Wang; Rongkaixuan Fang; Yue Sun; Meiya Suo — Frontiers in Immunology 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, NF-kB-IKK, mito-ROS-NF-kB, treatment-target
Describes mitochondrial danger signals (mtROS, mtDNA) converging on cGAS-STING, NLRP3, and NF-kB to drive SASP/inflammaging, mechanistically overlapping with the SAMHD1 interferon-mitochondrial loops though not disease-specific.
DOI: 10.3389/fimmu.2026.1881243
Trihexyl phosphate exposure disrupts mitophagy and activates mtDNA-cGAS-STING signaling to drive pyroptosis and steroidogenic impairment in Leydig cells. (from Toxicology/Andrology (reproductive endocrinology))
Yinwei Dai; Zhuoqi Chen; Weijian Zhu; Shaowei Wang; X. Ren — Journal of hazardous materials 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, mito-ROS-NF-kB, treatment-target
This paper demonstrates the mitophagy-mtDNA-cGAS-STING-NLRP3-pyroptosis cascade in a toxicological (reproductive) context, mechanistically paralleling the BLUE/RED loops in the SAMHD1 syndrome despite lacking any SAMHD1 or genetic haploinsufficiency link.
DOI: 10.1016/j.jhazmat.2026.141827
Programming Mn(II) coordination in self-assembling peptides amplifies mtDNA-driven STING signaling for potent antitumor immunity (from Materials science/nanomedicine oncology immunotherapy)
Guoyu Xia; Chenyang Wang; L. Peng; Weiyu Xing; Lulu Wang — Materials Today Bio 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target
This paper demonstrates a nanomaterial-driven mtDNA leakage → cGAS-STING amplification mechanism analogous to the BLUE pathway (VDAC1/mtDNA-cGAS-STING) in the syndrome, though applied here as an antitumor immunotherapy strategy rather than disease mechanism.
DOI: 10.1016/j.mtbio.2026.103373
Metformin attenuates lens epithelial cell senescence by suppressing cGAS-STING via SIRT1-PGC-1α-mediated mitochondrial fission. (from Ophthalmology (age-related cataract/lens epithelial cell biology))
Jialin Luo; Chaoqun Wei; Liyao Sun; Huirui Liu; Yu Mi — Experimental gerontology 2026
Score: 6/10 | Pathways: cGAS-STING, POLG-mtDNA, treatment-target
Demonstrates mitochondrial fragmentation-driven mtDNA cytosolic release activating cGAS-STING to promote senescence, mirroring the BLUE loop mechanism, with metformin/SIRT1-PGC-1α as a potential upstream treatment lever relevant to the syndrome's core pathway even though outside immunology.
DOI: 10.1016/j.exger.2026.113157
USP10 activity as sensitizer of lung adenocarcinoma to immune checkpoint inhibitors: Upregulating PD-L1 via the ANT3-mediated activation of the cGAS-STING pathway. (from Oncology (lung adenocarcinoma immunotherapy biomarker research))
Aman Wang; Mengyuan Xu; Z. Ning; Yibin Teng; He Qin — Journal of Clinical Oncology 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target
Demonstrates mtDNA leakage-driven cGAS-STING-TBK1-IRF3 activation via a mitochondrial protein (ANT3) that upregulates PD-L1, mechanistically parallel to the VDAC1/mtDNA-cGAS-STING loop in the SAMHD1 model though in an oncology/immunotherapy context rather than interferonopathy.
DOI: 10.1200/jco.2026.44.16_suppl.8542
A Dual‐Function Mitochondria‐Targeted Polyoxometalate Nanomicelle Boosts Pyroptosis‐Dependent Antitumor Immune Response in Triple‐Negative Breast Cancer (from Oncology/nanomedicine (breast cancer immunotherapy))
Qingqing Dou; Peixiao Jiang; Fang Zhang; Kun Yang; Zhichao Li — Rare Metals 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, mTOR-lysosomal, treatment-target
While focused on TNBC oncology rather than SAMHD1 biology, this paper demonstrates the exact core mechanism in the disease profile (GSDMD-mediated mtDNA release → cGAS-STING activation, mitophagy blockade sustaining the mtDNA-cGAS-STING axis) via a nanomaterial approach, offering mechanistic insight and a potential therapeutic strategy (lysosomal/autophagy blockade to amplify interferon signaling) relevant to the convergent interferon-mitochondrial syndrome pathways.
DOI: 10.1002/rar2.70302
C62-25 From Lupus to Interferonopathy: Revisiting the Diagnosis in a Child With Interstitial Lung Disease (from Pediatric Pulmonology/Critical Care Medicine)
A. Kenney; C. Spencer Grant; S. Shea — American Journal of Respiratory and Critical Care Medicine 2026
Score: 6/10 | Pathways: JAK-STAT, AGS-spectrum, clinical-phenotype, IRF7-metabolic
USP18-related type I interferonopathy presenting with ILD, NAFLD, and intracranial calcifications closely parallels the IFN-I/AGS-spectrum overlap and multi-organ interferonopathy phenotype relevant to SAMHD1-driven disease, though it involves a different gene in the same pathway.
DOI: 10.1093/ajrccm/aamag162.2768
Leveraging Type I Interferons: Exploring Pathogenesis and Therapeutic Strategies in Autoimmune Diseases. (from Rheumatology/autoimmune disease)
Sarvin Jabbari; R. Safaralizadeh; E. A. V. Beilankouhi; Mohammad Valilo; Mohamma — Critical reviews in immunology 2026
Score: 6/10 | Pathways: JAK-STAT, AGS-spectrum, treatment-target
General review of type I interferon signaling, epigenetics, and JAK-STAT in autoimmune disease/interferonopathies is relevant background to the IFN-I arm of the SAMHD1 mechanism but does not address SAMHD1, mitochondrial dNTP handling, or inflammasome crosstalk directly.
DOI: 10.1615/critrevimmunol.2026062673
Anifrolumab, a potential treatment for ADA2 deficiency. (from Rheumatology)
L. Vincenti; Jonathan Sormani; Alexandre Belot; Maël Richard; Yoann Roubertou — RMD open 2026
Score: 6/10 | Pathways: JAK-STAT, treatment-target, clinical-phenotype, AGS-spectrum
DADA2 is a related monogenic interferonopathy with autoinflammatory/vasculitis features showing successful IFN-I receptor blockade (anifrolumab), directly relevant as a treatment-target precedent for SAMHD1-driven interferon pathway pathology.
DOI: 10.1136/rmdopen-2025-006569
PTPN1-related autoinflammation is a common cause of Aicardi-Goutières Syndrome with reduced penetrance (from Genetics/genomics (AGS gene discovery cohort))
D. Calame; Emma Wiener; F. Gavazzi; A. Sevagamoorthy; A. Pizzino — medRxiv 2026
Score: 6/10 | Pathways: AGS-spectrum, cGAS-STING, JAK-STAT, clinical-phenotype
PTPN1 is a novel AGS-spectrum interferonopathy gene with reduced penetrance and later-onset autoinflammatory phenotype, directly analogous to the SAMHD1 A565T haploinsufficiency model of variable-penetrance type I interferonopathy.
DOI: 10.64898/2026.03.27.26345228
Severe Hyperinflammation and Evans Syndrome in Patient with RelA Deficiency Successfully Treated with Infliximab (from Rheumatology/Immunology (inborn errors of immunity))
Jamie Loutfy; Michell M Lozano; Sanjay J. Shah — Journal of Human Immunity 2026
Score: 6/10 | Pathways: NF-kB-IKK, treatment-target, clinical-phenotype, AGS-spectrum
RelA (p65) deficiency directly implicates the NF-kB pathway central to this disease's crosstalk axis, causing hyperinflammation/interferonopathy-like features and MAS treated with anti-TNF, offering therapeutic and mechanistic parallels though not SAMHD1-specific.
DOI: 10.70962/cis2026abstract.187
Haploinsufficiency for Human ABCF1 Underlies Gastrointestinal Autoimmunity (from Gastroenterology/immunogenetics (celiac disease and IBD genetics))
Xin Long; Xi Li; Zhikai Chi; W. Ying; Hemanth Karnati — Journal of Human Immunity 2026
Score: 6/10 | Pathways: JAK-STAT, treatment-target, clinical-phenotype
This paper describes another heterozygous haploinsufficiency gene (ABCF1) causing constitutive interferon signaling, JAK-STAT hyperactivation, and autoimmune/GI inflammation responsive to JAK inhibition (tofacitinib), closely paralleling the interferonopathy mechanism and treatment strategy relevant to SAMHD1 A565T.
DOI: 10.70962/cis2026abstract.213
Mechanisms outpacing medicine in autoinflammatory diseases (from clinical rheumatology/genetic medicine treatment strategy)
Ruyue Chen — Frontiers in Immunology 2026
Score: 6/10 | Pathways: cGAS-STING, NLRP3, JAK-STAT, treatment-target, clinical-phenotype, NF-kB-IKK, AGS-spectrum
This conceptual review on genotype-informed treatment frameworks for interferonopathies, inflammasomopathies, and NF-kB disorders provides directly relevant therapeutic decision-making context for the SAMHD1 A565T interferon-mitochondrial syndrome, though it lacks SAMHD1-specific data or mitochondrial dNTP mechanism detail.
DOI: 10.3389/fimmu.2026.1868804
Bespoke Base and Prime Editing Approaches for STING-Associated Vasculopathy with Onset in Infancy (SAVI) (from gene therapy / genome editing for inborn errors of immunity)
Enrico Drago; Jona Papri; Chiara Fresia; G. Casirati; F. Schena — Journal of Human Immunity 2026
Score: 6/10 | Pathways: cGAS-STING, prime-editing, gene-therapy-delivery, AGS-spectrum, treatment-target
This paper demonstrates base/prime editing correction of a STING1 gain-of-function interferonopathy mutation, directly relevant as a gene-therapy translation model for the SAMHD1 A565T interferon-driven syndrome, though it targets a different upstream node in the same IFN-I pathway.
DOI: 10.70962/cis2026abstract.5
COPA Syndrome and Its Many Flavors (from clinical immunology/genetics (pediatric inborn errors of immunity))
Faiyza Osman; J. P. Lopes — Journal of Human Immunity 2026
Score: 6/10 | Pathways: JAK-STAT, AGS-spectrum, clinical-phenotype, treatment-target
COPA syndrome is another monogenic type I interferonopathy with JAK-inhibitor responsiveness, immune dysregulation, and overlapping clinical features (arthralgia, pulmonary disease, autoinflammation) analogous to the SAMHD1 interferon-mitochondrial syndrome, offering cross-disease mechanistic and diagnostic parallels.
DOI: 10.70962/cis2026abstract.133
Influenza a virus NS2 suppresses NFKB/NF-κB signaling to facilitate viral replication by mediating the autophagic-degradation of IKBKG/NEMO. (from Virology/Autophagy biology)
Bo Zhang; Lebin Han; Chenying Cui; Jiaxin Huang; Qiyun Zhu — Autophagy 2026
Score: 6/10 | Pathways: NF-kB-IKK, other
Demonstrates a viral immune-evasion mechanism directly targeting NEMO/IKBKG via autophagic degradation, relevant to the NF-κB/IKK axis and viral-trigger context (adenovirus/SARS-CoV-2) implicated in the family's post-viral ME/CFS onset, though it does not involve SAMHD1 or interferon/NLRP3 pathways directly.
DOI: 10.1080/15548627.2026.2676801
Adenine Nucleotide Translocase: From Nucleotide Carrier to a Modulator of Mitochondrial Bioenergetics, Quality Control, and Cellular Communication (from cardiology/mitochondrial bioenergetics)
U. Rauch-Kroehnert; J. Heger; Ulf Landmesser; A. Dörner — Cells 2026
Score: 6/10 | Pathways: VDAC1, NLRP3, ISG15-mitophagy, mito-ROS-NF-kB, other
ANT is a functional analog/partner to VDAC1 in mitochondrial permeability transition, nucleic acid release, and PINK1-Parkin mitophagy-inflammasome crosstalk, providing mechanistic support for the BLUE/RED loop architecture even without direct SAMHD1 linkage.
DOI: 10.3390/cells15070646
Self-Carrier Nanoagonist Enabling Positive Feedback Regulation of Cuproptosis-Immunity for Potent Antitumor Therapy. (from Oncology/nanomedicine)
Minhao Jiang; Penghui Li; Yinuo Shu; Guoshi Xu; Yinghua Peng — ACS nano 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target, other
Describes mtDNA release triggering cGAS-STING activation via mitochondrial damage in a cancer nanomedicine context, mechanistically overlapping with the BLUE pathway's mtDNA-cGAS-STING axis though applied to oncology rather than SAMHD1 interferonopathy.
DOI: 10.1021/acsnano.5c19675
Genotoxicity profiling reveals distinct platform- and cell type–specific effects in therapeutic gene editing for genetic hyperinflammation (from Genome editing / gene therapy (hematology-immunology translational))
L. Lei; M. M. Kaufmann; Jessica P. Lao; Gudrun Thoulass; Sandra Ammann — Cell stem cell 2026
Score: 6/10 | Pathways: gene-therapy-delivery, prime-editing, treatment-target, NLRP3
This paper demonstrates base-editing correction of a point mutation causing a genetic hyperinflammatory syndrome (FHL3) in HSCs/T cells, directly analogous to the gene-correction strategies (base/prime editing in myeloid/immune cells) relevant to future SAMHD1 A565T therapeutic translation, though it does not involve SAMHD1, IFN-I, or NLRP3 mechanistically.
DOI: 10.1016/j.stem.2026.04.014
Galactose-decorated lipid nanoparticle-mediated delivery of a selective NLRP3 inhibitor attenuates hepatic inflammation in metabolic dysfunction-associated steatotic liver disease. (from Materials science/nanomedicine drug delivery)
Chunyan Niu; Wen Gao; M. Tan; Yue Chen; Yongqiang Shi — Journal of materials chemistry. B 2026
Score: 6/10 | Pathways: NLRP3, NF-kB-NLRP3-priming, treatment-target
Uses MCC950 (a known NLRP3 inhibitor referenced in the mechanism profile) with a targeted delivery system to treat NF-κB/NLRP3-driven hepatic steatosis/fibrosis, directly relevant to the GOLD/mito-dNTP-transport hepatic steatosis endpoint and hepatology clinical context.
DOI: 10.1039/d5tb02289d
[211At]Astatine-Based Conditioning with a Humanized CD45 Antibody for Autologous Hematopoietic Stem Cell Gene Therapy. (from Hematology/gene therapy engineering)
S. Radtke; George S. Laszlo; Kyle Swing; Andrea Repele; Jacob W Barton — Blood 2026
Score: 5/10 | Pathways: gene-therapy-delivery, prime-editing
Describes base editing and HSPC gene therapy delivery methodology relevant to future correction strategies for SAMHD1 variants but does not address SAMHD1 or interferon-mitochondrial mechanisms directly.
DOI: 10.1182/blood.2026033789
LAH5-mediated delivery of prime editor ribonucleoprotein complexes for genome editing. (from gene therapy / bioengineering (cardiology model system))
Bing Yao; Mert Öktem; Geng Yang; Qian Wang; Mark A Daniels — International journal of pharmaceutics 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
Describes a non-viral CPP-based delivery system for prime editor RNPs correcting a point mutation, technically relevant as a platform for future correction of SAMHD1 A565T though applied here to a cardiac PLN mutation, not immune/myeloid cells.
DOI: 10.1016/j.ijpharm.2026.126622
Nanoengineered 3D culture substrate enables superior persistence and polyclonal engraftment of genetically engineered hematopoietic stem cells (from Biomedical engineering/gene therapy (HSC bioengineering))
Federico Midena; Laura Alessandrini; C. Conci; M. Barcella; Francesco Gazzo — Cell Stem Cell 2026
Score: 5/10 | Pathways: gene-therapy-delivery, prime-editing
Describes a nanoengineered 3D HSPC culture platform enabling improved base/prime editing and lentiviral gene addition persistence, relevant as a delivery/correction strategy for future SAMHD1 het variant correction in HSC/myeloid lineages but not directly addressing SAMHD1 or its pathways.
DOI: 10.1016/j.stem.2025.12.016
Transduction of quiescent human hematopoietic stem and progenitor cells using lentiviral vectors and virus-like particles (from Gene and cell therapy / hematology)
Denise Klatt; C. Brendel — Current protocols 2026
Score: 5/10 | Pathways: gene-therapy-delivery
Describes lentiviral/eVLP transduction of quiescent HSPCs, a delivery platform relevant to future gene correction strategies for SAMHD1 variants in immune/myeloid cells but does not address disease mechanism directly.
DOI: 10.1002/cpz1.70301
Selection of human hematopoietic stem cells bearing the intended functional edit by transient AND-gate reporters. (from gene therapy/genome engineering)
D. Canarutto; Martina Fiumara; Vigneshwaran Venkatesan; Chiara Gaddoni; Kohei Sh — Nature biotechnology 2026
Score: 5/10 | Pathways: gene-therapy-delivery
Describes an HSPC gene-editing selection/enrichment platform (SMArT) relevant to future correction of het missense variants like SAMHD1 A565T in myeloid/immune progenitor cells, though not disease-specific.
DOI: 10.1038/s41587-026-03142-z
Functional correction and genome integrity with duplex base editing of β-thalassemic hematopoietic stem cells (from Hematology/gene therapy)
Nikoletta Y Papaioannou; Petros Patsali; Julia Klermund; P. Papasavva; G. Andrie — Genome Biology 2026
Score: 5/10 | Pathways: gene-therapy-delivery, prime-editing
Demonstrates base-editing safety/efficacy in primary CD34+ HSCs for a monogenic disease, methodologically relevant to future SAMHD1 het missense correction strategies in myeloid/immune cells despite different disease target.
DOI: 10.1186/s13059-026-03974-7
Novel gene-editing technologies: applications of CRISPR-Cas9, base editing, and prime editing in SCID gene therapy (from gene therapy/hematology)
Greg Crawford; P. Sagoo; H. B. Gaspar — Journal of Translational Genetics and Genomics 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
Reviews CRISPR-Cas9, base editing, and prime editing for SCID HSC gene therapy, relevant as a delivery/correction platform analogous to future SAMHD1 A565T myeloid correction but not disease-specific.
DOI: 10.20517/jtgg.2025.95
Abstract 3019: The first coacervate based delivery system for efficient and safe genetic engineering in stem cells (from gene therapy/bioengineering)
Peipei Zhu; Manman Lu; Qing Zhang; Renxia Zhang; Lihong Jiang — Cancer Research 2026
Score: 5/10 | Pathways: gene-therapy-delivery, prime-editing
Describes a novel non-viral coacervate delivery platform enabling efficient mRNA/Cas9 RNP and prime editing delivery into HSCs and iPSCs, relevant as a potential future correction strategy for a heterozygous missense variant like SAMHD1 p.A565T though not disease-specific.
DOI: 10.1158/1538-7445.am2026-3019
High-fidelity genome and prime editing enabled by the AI-designed openCRISPR-1. (from genome editing / synthetic biology)
Hye-Yeon Hwang; Hwalin Yi; Yuju Gwon; Eunju Jeon; Daesik Kim — Genome medicine 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
This paper describes a general-purpose AI-designed high-fidelity nuclease and prime editor platform (OpenCRISPR-1/PE7) with eVLP delivery, which is technically relevant to future correction of a heterozygous missense variant like SAMHD1 A565T but has no direct disease-specific content.
DOI: 10.1186/s13073-026-01682-2
A First-in-Human Base Edit Gene Therapy for CD40L Deficiency X-Linked Hyper IgM (XHIGM) Syndrome (from gene therapy / primary immunodeficiency)
S. de Ravin; Tyra Estwick; Yuzhi Yin; Michelle Ma; Siyuan Liu — Journal of Human Immunity 2026
Score: 5/10 | Pathways: gene-therapy-delivery, treatment-target
This describes base editing of autologous HSC/T cells for a monogenic primary immunodeficiency (CD40L/XHIGM), offering a relevant precedent for gene correction strategies in immune cells applicable to a het missense variant like SAMHD1 A565T, though the disease and mechanism are unrelated to interferonopathy/mitochondrial pathways.
DOI: 10.70962/cis2026abstract.1
On-Demand Personalized Gene Editing to Treat IRF4 p.T95A Immunodeficiency (from Gene therapy/immunodeficiency (IEI) translational research)
V. Toskov; Sébastien Levesque; M. Elkins; Haarika Kathi; C. Platt — Journal of Human Immunity 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery, clinical-phenotype
Not SAMHD1-related, but demonstrates allele-specific prime editing correction of a dominant-negative/neomorphic immune transcription factor variant in patient T cells, directly relevant to future gene correction strategies for a het missense variant like SAMHD1 A565T.
DOI: 10.70962/cis2026abstract.17
Restoration of the immune system with base editing and non-genotoxic conditioning in a Rag2 point-mutant mouse model. (from gene therapy / hematopoietic stem cell transplantation)
Carla Dib; Jack A. Queenan; Hana Willner; Leah Swartzrock; Carsten T. Charleswor — Molecular therapy : the journal of the American Society of Gene Therapy 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
Demonstrates base editing with eVLPs and non-genotoxic conditioning to correct a point-mutant HSPC immune disorder, directly relevant to future gene-correction strategies for a het missense variant like SAMHD1 A565T but not disease-specific.
DOI: 10.1016/j.ymthe.2026.04.010
Base editing of Artemis mutations ex vivo sheds light on gene therapy for Artemis-deficient SCID (from gene therapy / immunodeficiency genetics)
Ziwen Huang; Zhenxi Cai; Peiyang Yan; Yi-Heng Hu; Ying Wang — Advanced Biotechnology 2026
Score: 5/10 | Pathways: gene-therapy-delivery, prime-editing
Demonstrates base editing correction of a monogenic immunodeficiency gene (Artemis/SCID) ex vivo, offering a technical template relevant to future correction of het SAMHD1 missense variants like A565T but with no direct SAMHD1 or interferonopathy mechanism.
DOI: 10.1007/s44307-026-00115-w
Efficient prime editing in vivo and in vitro using lipid nanoparticles. (from gene therapy/nanomedicine engineering)
A. Jiang; Ana Cristian; Dominique L. Brooks; Emily R. Feierman; Paul Z. Chen — Nature nanotechnology 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
This paper demonstrates a generalizable LNP-based prime editing delivery platform for liver correction of point mutations, relevant as a potential future correction strategy for SAMHD1 A565T though not targeting immune/myeloid cells directly.
DOI: 10.1038/s41565-026-02200-6
Optimizing Peptide Ionizable Lipids Enables Efficient and Low‐Toxicity mRNA Delivery for In Vivo Prime Editing and Protein Replacement Therapy (from materials science / gene therapy delivery engineering)
Qiu Wang; Yi Lin; Jiahui Xiao; Keqing Xu; Zijin Luo — Advanced Materials 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
Describes a novel LNP platform for in vivo prime editing and mRNA delivery, relevant as a potential future gene correction vehicle for a SAMHD1 missense variant but not tissue/cell-type specific to immune/myeloid cells and lacks any disease-mechanism content.
DOI: 10.1002/adma.202522552
The Improvements and Applications of Prime Editing (from molecular genetics/gene therapy engineering)
Yaoyao Lu; C. Bouchard; Nicolas Soucy; A. Siddika; Gabriel Lamothe — DNA 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
General review of prime editing advancements and delivery methods (AAV, LNP, EV) relevant to future correction of heterozygous missense variants like SAMHD1 A565T, though not disease-specific.
DOI: 10.3390/dna6010016
A primer on prime: A prime editing update from advances to first-in-human trial. (from Gene therapy/genome editing)
Caleb Lushington; Paul Thomas; Fatwa Adikusuma — Molecular therapy : the journal of the American Society of Gene Therapy 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
General prime editing review with no SAMHD1 or immune-specific content, but relevant as a technology update for future correction of het missense variants like p.A565T.
DOI: 10.1016/j.ymthe.2026.04.033
Advances in Engineered Virus-Like Particles for Genome Editing and Therapy (from gene therapy/bioengineering)
Se Hyeok Son; S. Woo; Ayeon Choi; S. Ahn; Hee Chan Yoo — Biodrugs 2026
Score: 5/10 | Pathways: prime-editing, gene-therapy-delivery
Reviews eVLP delivery platforms for genome editing (Cas9/base/prime editors), relevant as a potential future correction strategy for a heterozygous missense variant like SAMHD1 A565T but with no disease-specific mechanistic content.
DOI: 10.1007/s40259-026-00767-z
Targeting the NLRP3 Inflammasome in Atherosclerosis: A Review of Natural Products and Their Molecular Mechanisms (from Cardiology/vascular pharmacology)
Su-Jin Bae; Hye-Min Seo; Si-Eon You; Junho H. Lee — International Journal of Molecular Sciences 2026
Score: 4/10 | Pathways: NLRP3, NF-kB-NLRP3-priming, mito-ROS-NF-kB
Reviews NLRP3 inflammasome activation (ROS, TLR4/NF-κB priming, mitochondrial ROS, autophagy) in atherosclerosis using natural product inhibitors, sharing core pathway mechanisms but no SAMHD1, interferon, or family-phenotype connection.
DOI: 10.3390/ijms27083650
Sarsasapogenin attenuates renal ischemia-reperfusion injury by inhibiting the NF-κB pathway and NLRP3 inflammasome-mediated pyroptosis. (from Nephrology/pharmacology (natural compound therapeutics))
Q. Yuan; Yaoke Li; Kaiwen Shen; Ruibo Zhang; Qiang Wang — International immunopharmacology 2026
Score: 4/10 | Pathways: NLRP3, NF-kB-IKK
This paper demonstrates NF-κB/NLRP3-mediated pyroptosis in a renal ischemia-reperfusion model, offering generic pathway overlap but no mitochondrial dNTP, cGAS-STING, or SAMHD1-specific mechanism relevant to the syndrome.
DOI: 10.1016/j.intimp.2026.116872
Rational design of a V-shaped DNA-targeted photosensitizer enables endogenous DNA damage-driven cGAS-STING activation and systemic antitumor immunity (from Oncology/biomaterials (photodynamic therapy))
Yi Cai; Cai-Yun Wang; M. Dong; Zhang Lin; Caiqiang Liao — Materials Today Bio 2026
Score: 4/10 | Pathways: cGAS-STING, NLRP3, other
This is a cancer photodynamic therapy paper using cGAS-STING/NLRP3 pathway activation as a tumor immunotherapy mechanism, sharing pathway components but with an artificial DNA-damage trigger unrelated to SAMHD1 dNTPase dysfunction or mitochondrial nucleotide biology.
DOI: 10.1016/j.mtbio.2026.103290
TRU-PE: A Universal, Trackable Prime Editor Toolkit for Robust Single-and Multi-Locus Genome Engineering (from Genome engineering/synthetic biology)
Zhichao Qiu; Keke Sun; Qingwei Zeng; Ziwei Luo; Xinran Liu — bioRxiv 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
This paper describes a general prime editing toolkit improving delivery/efficiency and multiplexing, with no direct SAMHD1 or immune/myeloid cell application shown, though the underlying technology is relevant to future correction of the p.A565T variant.
DOI: 10.64898/2026.02.20.706938
In vitro and in vivo base editing of CCR5 in hematopoietic stem cells confers HIV-1 resistance. (from Gene therapy/virology)
Anna K. Anderson; Aphrodite Georgakopoulou; A. Kuhlmann; Hongjie Wang; Andrew O. — Molecular therapy : the journal of the American Society of Gene Therapy 2026
Score: 4/10 | Pathways: gene-therapy-delivery
Demonstrates in vivo base editing in HSCs using helper-dependent adenoviral vectors for CCR5/HIV, offering a relevant delivery platform analog for future SAMHD1 correction but with no direct SAMHD1/interferonopathy mechanism.
DOI: 10.1016/j.ymthe.2026.03.018
Epigenome editing of human hematopoietic stem cells enables sustained and reversible thrombosis prevention (from Hematology/gene therapy engineering)
Tianyi Ye; Wanying Xu; Maria N. Barrachina; Peng Lyu; Mateusz Antoszewski — bioRxiv 2026
Score: 4/10 | Pathways: gene-therapy-delivery
This paper demonstrates HSC epigenome editing for durable gene silencing (ITGB3) relevant as a delivery/technology platform for future SAMHD1 correction strategies but has no direct connection to SAMHD1 or the interferon-mitochondrial-inflammasome mechanism.
DOI: 10.64898/2026.03.27.714536
O14 Next-generation sequencing precision: on- and off-target analysis of gene editing in recessive dystrophic epidermolysis bullosa (from Dermatology/gene therapy)
A. Kazemizadeh; I. Brooks; Carina Graham; Yara Alrokh; I. Guri — British Journal of Dermatology 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
This paper demonstrates base/prime editing correction of a COL7A1 nonsense variant with off-target NGS/WGS analysis, offering a methodological analog for correcting a heterozygous missense variant like SAMHD1 A565T but is unrelated to the disease's interferon-mitochondrial pathways or cell types (fibroblasts/keratinocytes vs. myeloid/immune cells).
DOI: 10.1093/bjd/ljaf429.014
Engineering precision oncology: Targeting tumors and immune cells with lentiviral vectors (from gene therapy vector engineering / oncology)
J. Rossi; Chiara Martinello; Riccardo G. Sorrentino; V. Guyonnet-Duperat; S. Ami — Molecular Therapy Oncology 2026
Score: 4/10 | Pathways: gene-therapy-delivery, prime-editing
This is a general lentiviral/VLP engineering review for oncology delivery with only tangential mention of prime-editing VLPs and no direct connection to SAMHD1 biology or the interferon-mitochondrial mechanism.
DOI: 10.1016/j.omton.2026.201197
Synonymous editing alters ion channel function, favoring prime editing for retinal disease correction (from Ophthalmology/retinal genetics)
Meha Kabra; M. Moosajee; Ana Navarrete; Gregory A. Newby; Piper A Rawding — International Journal of Biological Sciences 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
Demonstrates prime editing's superiority over base editing for precise missense correction with functional validation, methodologically relevant to future SAMHD1 A565T correction strategies but unrelated to disease mechanism or affected tissue.
DOI: 10.7150/ijbs.132743
In vivo base editing alleviates hepatic iron accumulation and fibrosis in models of HFE-related hereditary hemochromatosis. (from Hepatology/gene therapy)
Vanessa Hamann; Sebastian Hook; P. Sujariyakul; Rajesvaran Ramalingam; M. Sgodda — Journal of hepatology 2026
Score: 4/10 | Pathways: gene-therapy-delivery, prime-editing
This paper demonstrates LNP-delivered base editing for HFE hemochromatosis in hepatocytes, technically relevant as a gene correction delivery platform but not targeting immune/myeloid cells or SAMHD1-related pathways.
DOI: 10.1016/j.jhep.2026.05.022
In vivo base editing rescues liver pathophysiology and peroxisome dysfunction in a mouse model of Zellweger spectrum disorder (from Hepatology/Metabolic genetics (peroxisomal disorder gene therapy))
Xin D. Gao; Maximiliano Presa; Jordyn E Duby; Jennifer Ryan; Pierre-Alexandre Pi — Nature biomedical engineering 2026
Score: 4/10 | Pathways: gene-therapy-delivery
This paper demonstrates in vivo adenine base editing via AAV9/LNP delivery to correct a liver-specific monogenic disease, offering a relevant gene-correction technology template but no direct connection to SAMHD1, interferon/inflammasome pathways, or mitochondrial dNTP mechanisms.
DOI: 10.1038/s41551-026-01651-5
The next generation of lipid nanoparticles for
in vivo
engineering and targeted delivery (from nanomedicine/drug delivery engineering)
Penghui Zhao; Zerui Zhou; Jie Chen; Wei Sun; Zhen Tian — Nano Research 2026
Score: 4/10 | Pathways: gene-therapy-delivery
This is a general review of next-generation LNP delivery technology relevant to gene/mRNA therapeutics but does not address SAMHD1, its mechanistic pathways, or myeloid/immune-specific editing applications directly.
DOI: 10.26599/nr.2026.94908949
Prime Editing Exhibits Limited Genome-Wide Off-Target Effects in Cellular and Embryonic Gene Editing (from genome editing / molecular biology)
Jitan Zheng; Mingdi Wu; Xueyan Wang; Zhenrui Zuo; Chikai Zhou — Cells 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
General prime editing off-target safety benchmarking (PE5max vs PE3max) is a background gene-therapy platform advance not specific to SAMHD1 correction or myeloid/immune cell delivery.
DOI: 10.3390/cells15050438
Prime editing in neuropsychiatric disorders: From mutation‐specific target selection to clinical translation (from Neurology/gene therapy engineering)
Tianshan Ji; Yuan Zhang; Jinyi Zhao; Yi Lu; Chengkun Wang — Neuroprotection 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
Discusses general prime editing technology and delivery advances for neuropsychiatric disorders but is not specific to SAMHD1, myeloid/immune cell editing, or immune pathway mechanisms relevant to the disease profile.
DOI: 10.1002/nep3.70041
Optimizing prime editing: Advances in efficiency enhancement. (from molecular genome engineering/biotechnology)
Ying Qu; Yingying Li; Tong Shao; Jingyu Kuang; Yanhua Qi — Biotechnology advances 2026
Score: 4/10 | Pathways: prime-editing
This is a general technical review of prime editing efficiency optimization with no immune/myeloid cell context or connection to SAMHD1 correction strategies specifically, though relevant as background technology for future gene correction of the A565T variant.
DOI: 10.1016/j.biotechadv.2026.108815
Building CRISPR-Based Gene-Editing Platforms for Personalized Medicine: The Next Step in Interventional Genetics (from gene therapy/genetic engineering)
Sebastian Hernandez Rodriguez; Toshifumi Yokota — Genes 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
A general review of CRISPR base/prime editing platforms for personalized medicine, relevant only as background to potential future correction of the SAMHD1 A565T variant but with no disease-specific or pathway-specific content.
DOI: 10.3390/genes17060631
P19 Proof of concept for a variant-agnostic, permanent DNA editing cure for dystrophic epidermolysis bullosa (from Dermatology / gene therapy technology development)
Carina Graham; Stephen L Hart; John McGrath; Joanna Jacków-Malinowksa — British Journal of Dermatology 2026
Score: 4/10 | Pathways: prime-editing, gene-therapy-delivery
This paper demonstrates prime editing/eePASSIGE and LNP delivery technology relevant to future gene correction strategies but targets COL7A1/skin disease rather than SAMHD1 or immune/myeloid cells specifically.
DOI: 10.1093/bjd/ljaf429.046
Gene-Editing and Drug Delivery Convergence: Pharmaceutical Strategies for Precision Gene Therapy (from Pharmaceutical sciences/drug delivery)
Sanjeev Kumar; K. Raj; Kirti Rani; M. Kumawat; Priya Srivastava — Journal of Pharmacology, Genetics and Molecular Biology 2026
Score: 4/10 | Pathways: gene-therapy-delivery, prime-editing
General review of gene-editing delivery platforms with no SAMHD1, interferon, or mitochondrial mechanism specificity, though broadly relevant to future correction of the A565T variant.
DOI: 10.64062/jpgmb.vol2.issue2.1
Copper oxide nanoparticles induce size dependent endothelial damage and cuproptosis via MAPK/NF-κB/NLRP3 signaling pathway. (from Toxicology/nanomaterial safety science)
Ye Cheng; Xiangyu Cao; Dawo Liu — Food and chemical toxicology : an international journal published for the British Industrial Biological Research Association 2026
Score: 3/10 | Pathways: NLRP3, mito-ROS-NF-kB
This is a nanotoxicology study on copper oxide nanoparticles inducing endothelial cuproptosis via MAPK/NF-κB/NLRP3, sharing pathway components but with no connection to SAMHD1, interferon signaling, or mitochondrial dNTP biology.
DOI: 10.1016/j.fct.2026.116171
Recalibrating cell fate: targeting the mitochondrial signaling hub with natural active compounds to inhibit regulated cell death in diabetic kidney disease (from Nephrology/diabetes)
Yinzhong Dai; Chenguang Wu; Jiaying Zheng; Keqin Zhao; Shimei Hua — Frontiers in Physiology 2026
Score: 3/10 | Pathways: NLRP3, other
This paper discusses mitochondrial-driven NLRP3/apoptosis/ferroptosis crosstalk in diabetic kidney disease with natural compounds, sharing conceptual overlap with mitochondrial-NLRP3 signaling but no connection to SAMHD1, interferon pathways, or the specific disease mechanism.
DOI: 10.3389/fphys.2026.1774714
ASS1 Promotes Atherosclerotic Inflammation Through the NLRP3/IL-33/ST2 Axis in Ox-LDL-Induced Foam Cells. (from Cardiology/vascular biology)
Shaoyu Wu; Feihuang Han; Z. Qiao; S. Yuan; Xiaohui Bian — Frontiers in bioscience 2026
Score: 3/10 | Pathways: NLRP3, other
Describes NLRP3 inflammasome activation via STAT3/IL-33/ST2 in atherosclerotic foam cells, an unrelated ASS1-driven mechanism with only superficial NLRP3 overlap to the SAMHD1 syndrome's interferon-mitochondrial axis.
DOI: 10.31083/fbl47686
A bioadhesive antioxidant dual-crosslinked hydrogel mitigates endothelial pyroptosis to enhance ischemic flap survival. (from Plastic/reconstructive surgery, biomaterials engineering)
Kai Yang; Pei Zou; Yikun Ju; Shuai Zhu; Hongli Zhao — Journal of nanobiotechnology 2026
Score: 3/10 | Pathways: NLRP3, other
This paper discusses NLRP3 inflammasome suppression and endothelial pyroptosis in an unrelated surgical/tissue engineering context (flap survival), not connected to SAMHD1 mechanism or interferonopathy.
DOI: 10.1186/s12951-026-04767-7
Advances in lipid nanoparticles delivering genetic medicines for solid cancers (from oncology drug delivery)
Fan Yang; Tristan A. Scott — Molecular Therapy. Nucleic Acids 2026
Score: 3/10 | Pathways: gene-therapy-delivery
General review of LNP delivery for solid tumor genetic medicines, oncology-focused rather than immune/myeloid cell targeting relevant to SAMHD1 correction strategies.
DOI: 10.1016/j.omtn.2026.102838
Teknologi Pengeditan Gen pada Anemia Sel Sabit (Sickle Cell Disease) : CRISPR-Cas9, Base Editing, dan Prime Editing (from Hematology/genetic engineering education)
N. Fadhilah; H. Hartati — Biocaster : Jurnal Kajian Biologi 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
Reviews CRISPR/base/prime editing for sickle cell disease (HBB gene) with no connection to SAMHD1, interferon, or NLRP3 pathways, though it touches gene-editing platforms of tangential technical relevance to future SAMHD1 correction strategies.
DOI: 10.36312/biocaster.v6i1.861
Induced Pluripotent Stem Cells and Gene Editing: A Transformative Era in Regenerative Medicine (from regenerative medicine/stem cell biology)
Sujitha Mathivanan; Balaji A; Syed Mohamed Omar S; H. Babu; Sujan S — International Journal of Drug Delivery Technology 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
General review of iPSC and gene-editing (CRISPR/base/prime editing) technology platforms with no specific connection to SAMHD1, interferonopathy, or mitochondrial-inflammasome pathways beyond generic mention of prime editors.
DOI: 10.25258/ijddt.16.5.136
Gene Editing Strategies for Neurological and Mental Disorders: Advances in Delivery, Methodology, and Clinical Translation (from Neurology/gene therapy delivery)
A. Elias; S. Stern — Cells 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
This is a broad review of CNS-focused gene editing delivery and clinical milestones with no direct connection to SAMHD1, mitochondrial-interferon pathways, or NLRP3/cGAS-STING mechanisms, though prime/base editing methodology has tangential future relevance to correcting SAMHD1 variants.
DOI: 10.3390/cells15080720
Inflammasome-Primed Neutrophils Aggravate Atherosclerosis in Cigarette Smoking. (from Cardiology/vascular biology)
Dipanjan Chattopadhyay; Nitin Nitin; Robert M. Jaggers; Baskaran Athmanathan; Kr — Circulation research 2026
Score: 3/10 | Pathways: NLRP3, mito-ROS-NF-kB
Describes neutrophil-driven NLRP3/IL-1beta inflammation in atherosclerosis via S100A8/A9, tangentially touching NLRP3 biology but with no SAMHD1, interferon, or mitochondrial dNTP pathway involvement.
DOI: 10.1161/CIRCRESAHA.125.327714
Lipid nanoparticle-based non-viral in situ gene editing of congenital ichthyosis-causing mutations in human skin models. (from Dermatology/gene therapy)
Dilem C Apaydin; Gaurav Sadhnani; Tiffany Carlaw; Jan Renziehausen; Elena Lizuno — Cell stem cell 2026
Score: 3/10 | Pathways: gene-therapy-delivery
This paper describes LNP-delivered base editing for a skin-specific TGM1 splice mutation unrelated to SAMHD1 pathways, but shares generic gene-correction/LNP delivery methodology of tangential relevance to future SAMHD1 correction strategies.
DOI: 10.1016/j.stem.2026.01.001
A clinically relevant retrograde intraductal injection (RIDI) for lipid nanoparticles-mediated base editing in the pancreas. (from Gastroenterology/pancreatology gene therapy delivery engineering)
Deepak Sahel; Amita Tiyaboonchai; L. Wakefield; Jonas Renner; A. Jozić — Nanomedicine : nanotechnology, biology, and medicine 2026
Score: 3/10 | Pathways: gene-therapy-delivery
This paper describes LNP-based base editing delivery to pancreatic acinar cells via a novel injection route, which is tangential gene-editing-delivery technology but not targeted to immune/myeloid cells or SAMHD1-relevant tissue.
DOI: 10.1016/j.nano.2026.102933
Amplified genome editing by in vivo editor production (from genetic engineering/synthetic biology)
Wayne Ngo; Daniel Rosas-Rivera; Kevin M. Wasko; Longhui Qiu; Min Hyung Kang — bioRxiv 2026
Score: 3/10 | Pathways: gene-therapy-delivery
Describes a generic in vivo genome editing delivery amplification technique (NANITE) in liver, not targeting SAMHD1 or immune/myeloid cells, but tangentially relevant as a gene-therapy delivery advance.
DOI: 10.64898/2026.01.13.699115
Nanoparticle-mediated mRNA delivery for cancer, autoimmunity, and genetic diseases: a rapid review (from pharmaceutical/drug delivery science)
Ugwu Okechukwu Paul-Chima; F. C. Ogenyi; Mariam Basajja; C. N. Ugwu; M. Mustafa — Frontiers in Drug Delivery 2026
Score: 3/10 | Pathways: gene-therapy-delivery
General review of LNP/mRNA delivery for cancer, autoimmunity, and genetic disease with no direct connection to SAMHD1, interferon-mitochondrial mechanism, or family phenotypes beyond generic gene-therapy delivery relevance.
DOI: 10.3389/fddev.2026.1793322
Programmable lipid nanoparticles for RNA therapeutics: Design principles and clinical translation (from pharmaceutical sciences/nanomedicine)
Mahdi Navid Talemi; Marzieh Ramezani Farani; Naiyereh Alipour Eskandani; Danial * — Materials Today Bio 2026
Score: 3/10* | Pathways: gene-therapy-delivery
General LNP design review for RNA/gene therapeutics with no SAMHD1, interferonopathy, or mitochondrial pathway content, only tangentially relevant as a potential future delivery platform for immune/myeloid gene correction.
DOI: 10.1016/j.mtbio.2026.102774
Rewriting hepatic fate: emerging gene therapy strategies for liver disease (from Hepatology/gene therapy)
Ralf Weiskirchen — Journal of Translational Genetics and Genomics 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
General review of liver-directed gene therapy platforms (AAV, LNP, prime/base editing) with no SAMHD1, interferonopathy, or immune-cell delivery focus, only tangentially relevant via generic gene-correction technology overlap.
DOI: 10.20517/jtgg.2026.36
Optimized lipid nanoparticles for pulmonary delivery of CRISPR/Cas9 targeting KRAS G12S in lung cancer. (from Oncology/pulmonary gene therapy)
Moritz Marschhofer; Siyu Chen; Müge Molbay; Benjamin Winkeljann; Ersilia Villano — Journal of controlled release : official journal of the Controlled Release Society 2026
Score: 3/10 | Pathways: gene-therapy-delivery
This paper describes LNP-CRISPR delivery for KRAS-mutant lung cancer, a general gene-editing delivery technology unrelated to SAMHD1 mechanisms, immune cells, or interferonopathy pathways, though tangentially relevant as a gene-editing delivery platform.
DOI: 10.1016/j.jconrel.2026.114607
A Rapidly Excretable, ROS-Scavenging Ionizable Lipid Decouples mRNA Delivery Potency from Toxicity (from biomedical engineering/ophthalmology (LNP drug delivery, retinal gene therapy))
Yeji Lee; H. Jeong; Eunbin Kim; Yuna Hwang; Yongjoo Byeon — bioRxiv 2026
Score: 3/10 | Pathways: gene-therapy-delivery, other
This paper describes a novel ionizable lipid nanoparticle for mRNA/gene editing delivery with improved safety, which is only tangentially relevant as a general delivery platform technology rather than addressing SAMHD1 mechanisms or immune cell/myeloid targeting specifically.
DOI: 10.64898/2026.04.07.716828
CRISPR-Cas9 Applications in Gene Therapy: Advances, Challenges, and Future Perspectives (from Gene therapy/biomedical engineering)
Imran khan Yousafzai; Aqsa Mehreen; Nadia Noreen; Khadija Tariq; Akram ul Haq — Advances in Modern Biomedicine 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
General CRISPR-Cas9 review covering unrelated single-gene disorders with only generic mention of prime/base editing and delivery, lacking specific application to SAMHD1 or immune/myeloid cell correction relevant to this family's variant.
DOI: 10.64229/4r4mbv88
Application of extracellular vesicles in the CRISPR-based diagnosis and treatment: possibilities and challenges (from bioengineering/nanomedicine)
Eunhye Cho; Je-Heon Lee; Jiyu Kim; Jaewon Choi; Mikyung Kang — Journal of Biological Engineering 2026
Score: 3/10 | Pathways: gene-therapy-delivery
This is a general review of EV-based CRISPR delivery/diagnostics with no mention of SAMHD1, interferon-mitochondrial pathways, or myeloid/immune-specific gene correction relevant to the A565T variant.
DOI: 10.1186/s13036-026-00673-6
Engineering delivery platforms for CRISPR-Cas and their applications in healthcare, agriculture and beyond (from nanotechnology/bioengineering)
Nisha Bharti; Unnati Modi; Dhiraj Bhatia; Raghu Solanki — Nanoscale Advances 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
General review of CRISPR/base/prime editor delivery platforms with no SAMHD1, immune cell, or myeloid-specific focus, offering only broad background relevance to future gene correction strategies.
DOI: 10.1039/d5na00535c
Abstract LB155: Durable anti-tumor immunity through in vivo CAR T cell engineering using the RetroT all-RNA genome integration platform (from oncology/cell therapy engineering)
Jian Ding; Meghan Harris; Edward Cochran; Thach Ty; Glenn Leary — Cancer Research 2026
Score: 3/10 | Pathways: gene-therapy-delivery
Describes an in vivo CAR T RNA-based genome integration platform for oncology unrelated to SAMHD1 mechanism, though RNA delivery tech could theoretically inform future gene correction strategies for immune cells.
DOI: 10.1158/1538-7445.am2026-lb155
Polypeptide nanoparticles: a clinically validated, versatile delivery platform for RNA therapeutics (from pharmaceutical sciences/nanotechnology)
F. Poon; Weixiong Zhong; Weiwei Tian — Nucleic Acid Insights 2026
Score: 3/10 | Pathways: gene-therapy-delivery
Discusses a non-viral RNA delivery platform (PNP) broadly applicable to siRNA/mRNA therapeutics but lacks any specific connection to SAMHD1, immune cell/myeloid targeting, or the interferon-mitochondrial-NLRP3 mechanistic axis central to this disease profile.
DOI: 10.18609/nai.2026.032
Gene-based Therapies for Genetic Cardiomyopathies: Molecular Medicine for Heart Disease. (from Cardiology)
Shubham Sharma; C. Sadasivan; Yang Yan; G. Oudit — The Canadian journal of cardiology 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
This is a general review of gene-based therapies for cardiomyopathies (AAV vectors, base/prime editing, ASOs) with no SAMHD1 relevance and no myeloid/immune cell delivery focus, only tangentially connected via generic gene-editing technology.
DOI: 10.1016/j.cjca.2026.01.055
From mechanism to medicine: CRISPR‒Cas9 delivery strategies, therapeutic applications and translation challenges (from nanotechnology/gene therapy engineering)
Shivani Makhijani; Glowi A Alasiri; M. S. Quadri; Rahul G. Ingle — Discover Nano 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
General CRISPR delivery/therapeutic review with no SAMHD1-specific or pathway-specific content, only tangentially relevant as background for future gene correction strategies.
DOI: 10.1186/s11671-026-04653-z
Prime editing for ocular gene therapy and disease modeling: a narrative review of advances, delivery, and translational readiness. (from Ophthalmology)
Qing Zhang; Yanhui Yang; Xionggao Huang; Junkai Ma; Yajian Duan — Experimental eye research 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
Reviews prime editing technology and delivery advances generically for ocular disease but has no direct connection to SAMHD1 correction, immune/myeloid delivery, or the interferon-mitochondrial mechanism.
DOI: 10.1016/j.exer.2026.110891
Gene Editing Therapies Targeting Lipid Metabolism for Cardiovascular Disease: Tools, Delivery Strategies, and Clinical Progress (from Cardiology/lipid metabolism gene therapy)
Zhuoying Ren; Junsheng Zhou; Dongshan Yang; Yanhong Guo; Jifeng Zhang — Cells 2026
Score: 3/10 | Pathways: gene-therapy-delivery
Reviews gene editing delivery tools (AAV, LNP, VLP, base/prime editors) for liver-targeted lipid genes in cardiovascular disease, providing general technology overlap but no direct connection to SAMHD1, interferonopathy, or myeloid/immune cell editing.
DOI: 10.3390/cells15020134
Gene Editing Strategies (CRISPR) for Inherited Cardiomyopathies: Ethical, Technical and Clinical Review (from Cardiology / gene therapy bioethics)
Pavithra Amritkumar; Jayannan; Prabhavathi Devi N; K. M; P. S — International Journal of Drug Delivery Technology 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
A general review of CRISPR/base/prime editing for cardiomyopathy genes (MYH7, MYBPC3, LMNA, PKP2) with no SAMHD1, interferon, or mitochondrial-innate-immune pathway relevance, only tangential technical overlap in editing/delivery platforms.
DOI: 10.25258/ijddt.16.10s.22
Coordinated regulation using small-molecule drugs enables controlled therapeutic genome editing and enhanced genomic precision in situ. (from Synthetic biology/genome editing engineering)
Ju Zhang; Li Chen; Xingyu Zhu; Yushan Cai; Shixian Wei — Science translational medicine 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
This paper describes a general-purpose inducible genome editing control system (PRINCE/Little Prince) applied to hypercholesterolemia and AMD, with no connection to SAMHD1, immune/myeloid targeting, or the interferon-mitochondrial pathways central to this disease profile.
DOI: 10.1126/scitranslmed.adx7857
CRISPR-Cas Systems: From Bacterial BiochemistrytoBiomedical Revolution—A Review of Mechanisms, Delivery Challenges, and Therapeutic Gene Editing (from molecular biotechnology/genome editing)
N. Bhojak; S. Nayak; S. Acharya — IFR Journal of Biochemistry and Biomedical Science 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
General CRISPR/prime editing review with no SAMHD1, mitochondrial, or interferonopathy-specific content, only tangentially relevant as background for future gene correction strategies.
DOI: 10.70146/bbsv02i01.003
CRISPR-Cas9-Mediated Gene Editing in Hematological Disorders: Advancing Translational and Clinical Applications (from Hematology/gene therapy)
Abhay Singh; Rishikesh Kumar; P. Chauhan; M. Mallikarjuna; Ravi Thaker — Cureus 2026
Score: 3/10 | Pathways: gene-therapy-delivery
General narrative review of CRISPR-Cas9 in hematological disorders (hemoglobinopathies, CAR-T) with no direct SAMHD1, interferonopathy, or mitochondrial nucleotide mechanism relevance beyond generic HSC/immune cell editing platform discussion.
DOI: 10.7759/cureus.108691
CRISPR–Cas technologies in neurodegenerative disorders: mechanistic insights, therapeutic potential, and translational challenges (from neurology/gene therapy)
Raya Kh. Yashooa; A. Nabi; S. Smail; Sarkar Sardar Azeez; Wissam Albeer Nooh — Frontiers in Neurology 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
This is a general CRISPR/prime-editing review focused on neurodegenerative disorders (AD/PD/HD/ALS) with no mention of SAMHD1, interferon signaling, or mitochondrial-inflammasome pathways, though it touches broadly on gene-editing delivery challenges relevant to future SAMHD1 correction strategies.
DOI: 10.3389/fneur.2025.1737468
CRISPR–Cas Systems in Human Disease Therapy: Advances, Clinical Applications, Limitations, and Future Directions (from Gene therapy/genome engineering)
Gedion Mengistu — The Journal of Gene Medicine 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
General CRISPR/prime-editing review without mention of SAMHD1, myeloid/immune cell targeting, or any disease pathway relevant to this syndrome, offering only generic background on gene correction technology.
DOI: 10.1002/jgm.70091
Nanoengineering Systems for Gene Therapy: Mechanisms, Modalities, and Future Directions (from nanotechnology/bioengineering)
Raheem Mais; Ayush Kumar; Armand Ahmetaj; Gaby Burgos-Crespo; M. Sanchez — International Journal of Molecular Sciences 2026
Score: 3/10 | Pathways: gene-therapy-delivery, prime-editing
General review of nanomaterial delivery for CRISPR/base/prime editing without SAMHD1, immune-cell/myeloid focus, or disease-specific mechanism, offering only background relevance to future gene correction strategies.
DOI: 10.3390/ijms27135988
CRISPR-Based Therapeutics: Molecular Mechanisms of Gene-Targeted Drug Action (from Genome engineering / biotechnology)
Kaan Karakas — Next Frontier For Life Sciences and AI 2026
Score: 3/10 | Pathways: prime-editing, gene-therapy-delivery
General review of CRISPR/base/prime editing mechanisms without specific application to SAMHD1 or immune/myeloid cell correction, offering only tangential background relevance.
DOI: 10.62802/d0cp8g33
Summary: 16 new papers | 3 high-relevance (≥7) | 10 medium (5–6) | 3 low (3–4)
C107-14 Exploring How Mitochondrial Damage and Dysfunction Influences Tlr9 and Cgas-sting Pathways in Obesity and Influenza (from Pulmonology/Critical Care Medicine (ARDS, influenza))
A. Kumar; J. Silva; X. Li; D. Al Dikka; K. Epler — American Journal of Respiratory and Critical Care Medicine 2026
Score: 7/10 | Pathways: cGAS-STING, NF-kB-NLRP3-priming, mito-ROS-NF-kB, clinical-phenotype
This paper demonstrates mtDNA release triggering competing cGAS-STING (IFN-I) versus TLR9 (inflammatory) pathways in obesity/viral infection, directly paralleling the BLUE loop mtDNA-sensing mechanism and post-viral inflammatory phenotype central to the SAMHD1 syndrome, though without any SAMHD1 or genetic component.
DOI: 10.1093/ajrccm/aamag162.233
From protector to perpetrator: The cGAS-STING pathway at the intersection of neurodegeneration and neuroinflammation. (from Neurology/Neurodegeneration)
Ghaleb A. Oriquat; A. Abdulqader; Hamrayev Farid; Z. Ashurov; Abduvali Sottarov — Brain research bulletin 2026
Score: 7/10 | Pathways: cGAS-STING, treatment-target, other
This review details the core cGAS-STING pathway (Loop A) driving sterile neuroinflammation via mitochondrial DNA release and PINK1-Parkin-mitophagy crosstalk, mechanistically relevant to the neurological/AuDHD phenotypes and interferonopathy axis in the SAMHD1 family, though it lacks direct SAMHD1 or NLRP3/dNTP linkage.
DOI: 10.1016/j.brainresbull.2026.111963
Multiple Roles of G3BP1 in Regulating STING-Dependent Interferon and Cytokine Induction by Cytosolic dsDNA and HSV-1 Infection (from virology/molecular cell biology)
Trupti Devale; Praveen Manivannan; K. Malathi — Viruses 2026
Score: 7/10 | Pathways: cGAS-STING, treatment-target
Details G3BP1 as a novel regulator of cGAS-STING DNA sensing and STING trafficking, directly relevant to the BLUE loop (cGAS/STING/IFN-I) central to the disease mechanism, though it does not involve SAMHD1 directly.
DOI: 10.3390/v18070719
Hypoxia-Inducible Factor Prolyl Hydroxylase EGLN3 Stabilizes Atherosclerotic Plaques in ApoE-/- Mice Independently of Its Catalytic Activity. (from cardiovascular biology/atherosclerosis)
Jin Ying; Xu Lei; Xiong Yulian; Sun Dejiao; Liu Lanlan — Arteriosclerosis, thrombosis, and vascular biology 2026
Score: 6/10 | Pathways: NLRP3, NF-kB-IKK, mito-ROS-NF-kB, treatment-target
This paper demonstrates mitochondrial ROS/mtDNA release driving NLRP3 inflammasome activation via TRAF6-NFκB crosstalk in macrophages, closely mirroring the disease's mito-ROS-NFκB and NLRP3 priming axes, though it is set in atherosclerosis rather than SAMHD1-related interferonopathy.
DOI: 10.1161/ATVBAHA.125.323765
The cGAS-STING-Glymphatic-gut Axis in Parkinson's disease: A proposed self-amplifying triad of Neuroinflammation and therapeutic opportunity. (from Neurology/Parkinson's disease and gut-brain axis research)
Ahmed M. Abdelaziz — International immunopharmacology 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target, other
This paper details a cGAS-STING-driven neuroinflammatory feed-forward loop involving mtDNA DAMPs and IFN signaling, directly relevant to the interferon-mitochondrial axis in the SAMHD1 syndrome, though it addresses Parkinson's disease and gut-brain/glymphatic mechanisms rather than SAMHD1 itself.
DOI: 10.1016/j.intimp.2026.116628
Mechanistic insights and therapeutic potential of targeting the cGAS–STING pathway in neurodegenerative diseases (from Neurology/neurodegeneration)
Huilin Liu; Chun Hu; Hongdou Liu; Ziqing Gong; Shilong Jiang — Journal of Neuroinflammation 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target, other
Provides deep mechanistic review of cGAS-STING signaling and mitochondrial DNA-stress-driven neuroinflammation relevant to the BLUE loop and AuDHD/neurologic phenotype, though not SAMHD1-specific.
DOI: 10.1186/s12974-026-03815-1
Emerging Role of the cGAS–STING Signaling Pathway in Multiple Inflammatory Skin Diseases (from Dermatology)
Shasha Zhao; H. Bai; Ying Wang; Yan Yan — Dermatologic Therapy 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target, clinical-phenotype
Reviews cGAS-STING pathway dysregulation driving inflammatory skin diseases and therapeutic agonist/inhibitor strategies, directly relevant to Loop A/BLUE mechanism and offering treatment insights applicable to the interferonopathy but without SAMHD1-specific data.
DOI: 10.1155/dth/3322507
Mitochondrial DNA-driven intercellular communication networks in post-infarction ventricular remodeling: the three-threshold model of cGAS-STING activation (from Cardiology (post-infarction remodeling))
Chao Meng; Xiao Xia; Yiying Liu; Jun Li; Shiyi Tao — Frontiers in Immunology 2026
Score: 6/10 | Pathways: cGAS-STING, VDAC1, treatment-target
Details mtDNA release/cGAS-STING activation as intercellular DAMP signaling driving cardiac fibrosis/inflammation, mechanistically parallel to the BLUE loop (VDAC1-mtDNA-cGAS-STING) though in a cardiac rather than SAMHD1 context.
DOI: 10.3389/fimmu.2026.1852079
The inflammatory clock: how cGAS-STING ticks in the aging ovary (from Reproductive endocrinology/gynecology)
Yanjing Ma; Yu Chen; Xiong Yuan; Tingyue Li; Hao Luo — Frontiers in Cell and Developmental Biology 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target, clinical-phenotype, other
Reviews cGAS-STING as driver of mitochondrial/DNA-damage-induced sterile inflammation, senescence and fibrosis in ovarian aging, directly relevant to the core Loop A mechanism and offers therapeutic parallels (STING inhibitors) though not linked to SAMHD1 or the family's reproductive phenotypes.
DOI: 10.3389/fcell.2026.1771546
Stroke in persistent chronic kidney disease condition alters innate-immunity to escalate mitochondrial dysfunction and aging. (from Nephrology/Neurology (stroke-CKD comorbidity))
Aishika Datta; Karan Sehgal; Deepaneeta Sarmah; Smreeti Dhiman; Birva Shah — npj aging 2026
Score: 6/10 | Pathways: cGAS-STING, other
Demonstrates cGAS-STING-driven mitochondrial dysfunction and accelerated mitochondrial aging in a CKD-stroke model, paralleling the core IFN-mitochondrial mechanism though in an unrelated disease context without SAMHD1 involvement.
DOI: 10.1038/s41514-026-00361-1
Deficient TRPM3-linked mitochondrial Ca2+ influx in natural killer cells associated with myalgic encephalomyelitis/chronic fatigue syndrome. (from Cell biology/ion channel physiology)
C. Magawa; N. Eaton-Fitch; Katsuhiko Muraki; Sonya Marshall-Gradisnik — BMC immunology 2026
Score: 6/10 | Pathways: ME-CFS, other
Investigates mitochondrial Ca2+ dysregulation via TRPM3 in NK cells from ME/CFS patients, directly relevant to the proband's ME/CFS phenotype and mitochondrial dysfunction theme though not through the SAMHD1/interferon-NLRP3 mechanism.
DOI: 10.1186/s12865-026-00849-1
Mitochondrial STING Governs Glycolytic Reprogramming in Diabetic Cardiomyopathy. (from Cardiology/metabolic disease)
Shiwu Zhang; Dechao Zhao; Mengyi Wang; Xiaorong Shen; Fan Yang — Circulation research 2026
Score: 6/10 | Pathways: cGAS-STING, treatment-target, other
Demonstrates mitochondrial cGAS-STING activation via mtDNA leakage driving metabolic/mitochondrial dysfunction in cardiomyopathy, mechanistically parallel to the BLUE loop and relevant to cardiac phenotype in this interferonopathy family though not disease-specific.
DOI: 10.1161/CIRCRESAHA.125.327867
Context-dependent rewiring of the cGAS-STING pathway in cancer: Implications for immunotherapy and therapeutic resistance. (from Oncology/tumor immunology)
S. Majaz; Ashfaq Ahmad; Dongsheng Liu; A. Ud-Din; Ikramullah Khan — Critical reviews in oncology/hematology 2026
Score: 5/10 | Pathways: cGAS-STING, treatment-target
Reviews cGAS-STING pathway biology and therapeutic modulation relevant to the BLUE/Loop A axis but focused on cancer immunotherapy context rather than SAMHD1-driven interferonopathy or mitochondrial dysfunction.
DOI: 10.1016/j.critrevonc.2026.105368
Fatty Acid Synthase associates with nuclear-derived cytoplasmic dsRNA molecules and influences antiviral innate immune response (from molecular virology/lipid metabolism)
Charline Pasquier; Mélanie Messmer; Lise Moroge; Lisanne I Knol; Johana Chicher — bioRxiv 2026
Score: 4/10 | Pathways: cGAS-STING, other
Explores FASN-mediated regulation of endogenous cytoplasmic dsRNA and ISG/IFN response near mitochondria, tangentially related to the interferon-mitochondrial axis but not involving SAMHD1, cGAS-STING core mechanism, or NLRP3 directly.
DOI: 10.1101/2025.07.16.662511
Potentiated Tumor Photo-immunotherapy Based on Glutamine Starvation and Interferon Stimulatory DNA-Activated cGAS-STING Pathway. (from Oncology/nanomedicine (photo-immunotherapy))
Jinwen Zhu; Zhenzhen Guo; Renpeng Xia; Peng Miao — ACS medicinal chemistry letters 2026
Score: 3/10 | Pathways: cGAS-STING, treatment-target
This paper uses cGAS-STING activation (via exogenous ISD, not SAMHD1-driven mtDNA leakage) purely as a tumor immunotherapy strategy, sharing pathway terminology but no mechanistic or clinical link to SAMHD1 haploinsufficiency or the family phenotype.
DOI: 10.1021/acsmedchemlett.6c00074
Implementing Photodynamic Therapy to Activate the IFN-1 Pathway in Melanoma Cells: A Protocol for Inducing Immunogenic Cell Death and Enhancing Dendritic Cell Maturation. (from Oncology/Photodynamic therapy immunotherapy)
Fátima María Mentucci; Agustina Ercole; N. B. Rumie Vittar; M. Lamberti — Methods in molecular biology 2026
Score: 3/10 | Pathways: cGAS-STING, other
Describes PDT-induced cGAS/IFN-1/ISG activation in melanoma as an immunotherapy tool, sharing pathway components but unrelated to SAMHD1 mechanism or family phenotype context.
DOI: 10.1007/978-1-0716-4734-9_9