{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,16]],"date-time":"2026-10-16T11:42:56Z","timestamp":1792150976096,"version":"4.4.0"},"reference-count":141,"publisher":"Elsevier BV","license":[{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-017"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-037"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-012"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-029"},{"start":{"date-parts":[[2026,4,1]],"date-time":"2026-04-01T00:00:00Z","timestamp":1775001600000},"content-version":"stm-asf","delay-in-days":0,"URL":"https:\/\/doi.org\/10.15223\/policy-004"}],"funder":[{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","award":["1908085MH279"],"award-info":[{"award-number":["1908085MH279"]}],"id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100003995","name":"Natural Science Foundation of Anhui Province","doi-asserted-by":"publisher","award":["1508085MH158"],"award-info":[{"award-number":["1508085MH158"]}],"id":[{"id":"10.13039\/501100003995","id-type":"DOI","asserted-by":"publisher"}]},{"DOI":"10.13039\/501100010814","name":"Anhui Provincial Department of Education","doi-asserted-by":"publisher","award":["2024AH050687"],"award-info":[{"award-number":["2024AH050687"]}],"id":[{"id":"10.13039\/501100010814","id-type":"DOI","asserted-by":"publisher"}]}],"content-domain":{"domain":["clinicalkey.com","clinicalkey.com.au","clinicalkey.es","clinicalkey.fr","clinicalkey.jp","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Clinical Immunology"],"published-print":{"date-parts":[[2026,4]]},"DOI":"10.1016\/j.clim.2026.110680","type":"journal-article","created":{"date-parts":[[2026,2,8]],"date-time":"2026-02-08T15:47:03Z","timestamp":1770565623000},"page":"110680","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"special_numbering":"C","title":["Aicardi-Gouti\u00e8res Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond"],"prefix":"10.1016","volume":"284","author":[{"given":"Yuhan","family":"Li","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Songcheng","family":"Ying","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1016\/j.clim.2026.110680_bb0005","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1002\/ana.410150109","article-title":"A progressive familial encephalopathy in infancy with calcifications of the basal ganglia and chronic cerebrospinal fluid lymphocytosis","volume":"15","author":"Aicardi","year":"1984","journal-title":"Ann. Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0010","series-title":"GeneReviews\u00ae [Internet]","article-title":"Aicardi-Gouti\u00e8res Syndrome","author":"Crow","year":"1993"},{"key":"10.1016\/j.clim.2026.110680_bb0015","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1093\/bmb\/ldn049","article-title":"Aicardi-Gouti\u00e8res syndrome","volume":"89","author":"Orcesi","year":"2009","journal-title":"Br. Med. Bull."},{"key":"10.1016\/j.clim.2026.110680_bb0020","doi-asserted-by":"crossref","first-page":"297","DOI":"10.1146\/annurev-med-050715-104506","article-title":"The Type I Interferonopathies","volume":"68","author":"Lee-Kirsch","year":"2017","journal-title":"Annu. Rev. Med."},{"key":"10.1016\/j.clim.2026.110680_bb0025","doi-asserted-by":"crossref","first-page":"296","DOI":"10.1002\/ajmg.a.36887","article-title":"Characterization of human disease phenotypes associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, and IFIH1","volume":"167A","author":"Crow","year":"2015","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2026.110680_bb0030","doi-asserted-by":"crossref","first-page":"429","DOI":"10.1038\/nri3850","article-title":"Aicardi-Gouti\u00e8res syndrome and the type I interferonopathies","volume":"15","author":"Crow","year":"2015","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0035","doi-asserted-by":"crossref","first-page":"320","DOI":"10.1016\/j.braindev.2020.10.005","article-title":"PNPT1 mutations may cause Aicardi-Gouti\u00e8res-Syndrome","volume":"43","author":"Bamborschke","year":"2021","journal-title":"Brain Dev."},{"key":"10.1016\/j.clim.2026.110680_bb0040","doi-asserted-by":"crossref","first-page":"221","DOI":"10.1016\/S0165-2478(00)00276-5","article-title":"Identification of human homologue of mouse IFN-gamma induced protein from human dendritic cells","volume":"74","author":"Li","year":"2000","journal-title":"Immunol. Lett."},{"key":"10.1016\/j.clim.2026.110680_bb0045","doi-asserted-by":"crossref","first-page":"1304","DOI":"10.1038\/nsmb.2692","article-title":"Mechanism of allosteric activation of SAMHD1 by dGTP","volume":"20","author":"Ji","year":"2013","journal-title":"Nat. Struct. Mol. Biol."},{"key":"10.1016\/j.clim.2026.110680_bb0050","doi-asserted-by":"crossref","first-page":"5","DOI":"10.1189\/jlb.4HI0714-338RR","article-title":"SAMHD1\u2019s protein expression profile in humans","volume":"98","author":"Schmidt","year":"2015","journal-title":"J. Leukoc. Biol."},{"key":"10.1016\/j.clim.2026.110680_bb0055","doi-asserted-by":"crossref","first-page":"936","DOI":"10.1038\/nm.3626","article-title":"The ribonuclease activity of SAMHD1 is required for HIV-1 restriction","volume":"20","author":"Ryoo","year":"2014","journal-title":"Nat. Med."},{"key":"10.1016\/j.clim.2026.110680_bb0060","doi-asserted-by":"crossref","first-page":"193","DOI":"10.1002\/ped4.12428","article-title":"Neurophenotype and genetic analysis of children with Aicardi-Gouti\u00e8res syndrome in China","volume":"8","author":"Zhang","year":"2024","journal-title":"Pediatr. Investig."},{"key":"10.1016\/j.clim.2026.110680_bb0065","doi-asserted-by":"crossref","DOI":"10.3390\/v12040382","article-title":"SAMHD1 functions and human diseases","volume":"12","author":"Coggins","year":"2020","journal-title":"Viruses"},{"key":"10.1016\/j.clim.2026.110680_bb0070","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1016\/j.tim.2015.08.002","article-title":"SAMHD1: at the crossroads of cell proliferation, immune responses, and virus restriction","volume":"23","author":"Ballana","year":"2015","journal-title":"Trends Microbiol."},{"key":"10.1016\/j.clim.2026.110680_bb0075","doi-asserted-by":"crossref","first-page":"96","DOI":"10.1080\/08916934.2018.1454912","article-title":"SAMHD1: recurring roles in cell cycle, viral restriction, cancer, and innate immunity","volume":"51","author":"Mauney","year":"2018","journal-title":"Autoimmunity"},{"key":"10.1016\/j.clim.2026.110680_bb0080","doi-asserted-by":"crossref","DOI":"10.1111\/sji.13314","article-title":"Aicardi-Gouti\u00e8res syndrome: A monogenic type I interferonopathy","volume":"98","author":"Liu","year":"2023","journal-title":"Scand. J. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0085","doi-asserted-by":"crossref","first-page":"917","DOI":"10.1038\/ng1845","article-title":"Mutations in the gene encoding the 3\u2032-5\u2019 DNA exonuclease TREX1 cause Aicardi-Gouti\u00e8res syndrome at the AGS1 locus","volume":"38","author":"Crow","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0090","doi-asserted-by":"crossref","first-page":"910","DOI":"10.1038\/ng1842","article-title":"Mutations in genes encoding ribonuclease H2 subunits cause Aicardi-Gouti\u00e8res syndrome and mimic congenital viral brain infection","volume":"38","author":"Crow","year":"2006","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0095","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1038\/ng.373","article-title":"Mutations involved in Aicardi-Gouti\u00e8res syndrome implicate SAMHD1 as regulator of the innate immune response","volume":"41","author":"Rice","year":"2009","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0100","doi-asserted-by":"crossref","first-page":"1243","DOI":"10.1038\/ng.2414","article-title":"Mutations in ADAR1 cause Aicardi-Gouti\u00e8res syndrome associated with a type I interferon signature","volume":"44","author":"Rice","year":"2012","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0105","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1038\/ng.2933","article-title":"Gain-of-function mutations in IFIH1 cause a spectrum of human disease phenotypes associated with upregulated type I interferon signaling","volume":"46","author":"Rice","year":"2014","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0110","doi-asserted-by":"crossref","first-page":"1364","DOI":"10.1038\/s41588-020-00737-3","article-title":"cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing","volume":"52","author":"Uggenti","year":"2020","journal-title":"Nat. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0115","article-title":"Systemic complications of Aicardi Gouti\u00e8res syndrome using real-world data","volume":"143","author":"Peixoto","year":"2024","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.clim.2026.110680_bb0120","doi-asserted-by":"crossref","first-page":"506","DOI":"10.1016\/j.autrev.2012.08.012","article-title":"Aicardi-Gouti\u00e8res syndrome, a rare neurological disease in children: a new autoimmune disorder?","volume":"12","author":"Fazzi","year":"2013","journal-title":"Autoimmun. Rev."},{"key":"10.1016\/j.clim.2026.110680_bb0125","doi-asserted-by":"crossref","first-page":"1621","DOI":"10.1212\/01.WNL.0000159864.05826.08","article-title":"The natural history of Aicardi-Gouti\u00e8res syndrome: follow-up of 11 Italian patients","volume":"64","author":"Lanzi","year":"2005","journal-title":"Neurology"},{"key":"10.1016\/j.clim.2026.110680_bb0130","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1086\/521373","article-title":"Clinical and molecular phenotype of Aicardi-Gouti\u00e8res syndrome","volume":"81","author":"Rice","year":"2007","journal-title":"Am. J. Hum. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0135","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1016\/j.pediatrneurol.2020.10.012","article-title":"Late-Onset Aicardi-Gouti\u00e8res Syndrome: A Characterization of Presenting Clinical Features","volume":"115","author":"Piccoli","year":"2021","journal-title":"Pediatr. Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0140","doi-asserted-by":"crossref","first-page":"612","DOI":"10.1111\/dmcn.12359","article-title":"Intracranial calcification in childhood: a review of aetiologies and recognizable phenotypes","volume":"56","author":"Livingston","year":"2014","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0145","doi-asserted-by":"crossref","first-page":"28","DOI":"10.1212\/WNL.0000000000002228","article-title":"Neuroradiologic patterns and novel imaging findings in Aicardi-Gouti\u00e8res syndrome","volume":"86","author":"La Piana","year":"2016","journal-title":"Neurology"},{"key":"10.1016\/j.clim.2026.110680_bb0150","doi-asserted-by":"crossref","first-page":"680","DOI":"10.1111\/dmcn.13027","article-title":"Leukodystrophies and genetic leukoencephalopathies in childhood: a national epidemiological study","volume":"58","author":"Stellitano","year":"2016","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0155","doi-asserted-by":"crossref","first-page":"642","DOI":"10.1212\/01.WNL.0000082726.08631.E7","article-title":"Cerebrospinal fluid pterins and folates in Aicardi-Gouti\u00e8res syndrome: a new phenotype","volume":"61","author":"Blau","year":"2003","journal-title":"Neurology"},{"key":"10.1016\/j.clim.2026.110680_bb0160","doi-asserted-by":"crossref","first-page":"1931","DOI":"10.1136\/annrheumdis-2014-205396","article-title":"Aicardi-Gouti\u00e8res syndrome harbours abundant systemic and brain-reactive autoantibodies","volume":"74","author":"Cuadrado","year":"2015","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.clim.2026.110680_bb0165","doi-asserted-by":"crossref","first-page":"245","DOI":"10.1093\/brain\/aws321","article-title":"Chronic exposure of astrocytes to interferon-alpha reveals molecular changes related to Aicardi-Gouti\u00e8res syndrome","volume":"136","author":"Cuadrado","year":"2013","journal-title":"Brain"},{"key":"10.1016\/j.clim.2026.110680_bb0170","doi-asserted-by":"crossref","first-page":"212","DOI":"10.1111\/j.1365-2133.2012.10813.x","article-title":"Inherited or de novo mutation affecting aspartate 18 of TREX1 results in either familial chilblain lupus or Aicardi-Gouti\u00e8res syndrome","volume":"167","author":"Tungler","year":"2012","journal-title":"Br. J. Dermatol."},{"key":"10.1016\/j.clim.2026.110680_bb0175","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1055\/s-0030-1255059","article-title":"Chilblains as a diagnostic sign of aicardi-Gouti\u00e8res syndrome","volume":"41","author":"Abdel-Salam","year":"2010","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.clim.2026.110680_bb0180","doi-asserted-by":"crossref","first-page":"652","DOI":"10.1007\/s12098-020-03196-0","article-title":"Aicardi-Gouti\u00e8res Syndrome Presenting with Congenital Glaucoma","volume":"87","author":"Gowda","year":"2020","journal-title":"Indian J. Pediatr."},{"key":"10.1016\/j.clim.2026.110680_bb0185","doi-asserted-by":"crossref","first-page":"490","DOI":"10.1007\/s12519-022-00545-1","article-title":"Analysis of clinical characteristics of children with Aicardi-Gouti\u00e8res syndrome in China","volume":"18","author":"Wang","year":"2022","journal-title":"World J. Pediatr."},{"key":"10.1016\/j.clim.2026.110680_bb0190","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1002\/acn3.50979","article-title":"Relapsing-remitting clinical course expands the phenotype of Aicardi-Gouti\u00e8res syndrome","volume":"7","author":"Lambe","year":"2020","journal-title":"Ann. Clin. Transl. Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0195","doi-asserted-by":"crossref","first-page":"201","DOI":"10.1016\/0022-510X(88)90125-6","article-title":"Intrathecal synthesis of interferon-alpha in infants with progressive familial encephalopathy","volume":"84","author":"Lebon","year":"1988","journal-title":"J. Neurol. Sci."},{"key":"10.1016\/j.clim.2026.110680_bb0200","doi-asserted-by":"crossref","first-page":"1696","DOI":"10.1016\/j.immuni.2024.05.017","article-title":"The brain microvasculature is a primary mediator of interferon-alpha neurotoxicity in human cerebral interferonopathies","volume":"57","author":"Viengkhou","year":"2024","journal-title":"Immunity"},{"key":"10.1016\/j.clim.2026.110680_bb0205","doi-asserted-by":"crossref","first-page":"399","DOI":"10.1111\/bpa.12600","article-title":"Astrocytes, an active player in Aicardi-Gouti\u00e8res syndrome","volume":"28","author":"Sase","year":"2018","journal-title":"Brain Pathol."},{"key":"10.1016\/j.clim.2026.110680_bb0210","doi-asserted-by":"crossref","first-page":"539","DOI":"10.1016\/j.neuron.2023.10.014","article-title":"STING signaling in the brain: Molecular threats, signaling activities, and therapeutic challenges","volume":"112","author":"Yang","year":"2024","journal-title":"Neuron"},{"key":"10.1016\/j.clim.2026.110680_bb0215","doi-asserted-by":"crossref","first-page":"1159","DOI":"10.1016\/S1474-4422(13)70258-8","article-title":"Assessment of interferon-related biomarkers in Aicardi-Gouti\u00e8res syndrome associated with mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, and ADAR: a case-control study","volume":"12","author":"Rice","year":"2013","journal-title":"Lancet Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0220","doi-asserted-by":"crossref","first-page":"1669","DOI":"10.1172\/JCI129301","article-title":"Distinct interferon signatures and cytokine patterns define additional systemic autoinflammatory diseases","volume":"130","author":"de Jesus","year":"2020","journal-title":"J. Clin. Invest."},{"key":"10.1016\/j.clim.2026.110680_bb0225","doi-asserted-by":"crossref","first-page":"1019","DOI":"10.1016\/j.immuni.2013.10.019","article-title":"Cyclic GMP-AMP synthase is activated by double-stranded DNA-induced oligomerization","volume":"39","author":"Li","year":"2013","journal-title":"Immunity"},{"key":"10.1016\/j.clim.2026.110680_bb0230","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1038\/s41580-021-00430-1","article-title":"Cellular origins of dsRNA, their recognition and consequences","volume":"23","author":"Chen","year":"2022","journal-title":"Nat. Rev. Mol. Cell Biol."},{"key":"10.1016\/j.clim.2026.110680_bb0235","doi-asserted-by":"crossref","first-page":"235","DOI":"10.1038\/s41577-023-00940-3","article-title":"Novel insights into double-stranded RNA-mediated immunopathology","volume":"24","author":"de Reuver","year":"2024","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0240","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1016\/j.coviro.2015.04.004","article-title":"How RIG-I like receptors activate MAVS","volume":"12","author":"Wu","year":"2015","journal-title":"Curr. Opin. Virol."},{"key":"10.1016\/j.clim.2026.110680_bb0245","doi-asserted-by":"crossref","first-page":"759","DOI":"10.14348\/molcells.2015.0047","article-title":"Regulation of MDA5-MAVS Antiviral Signaling Axis by TRIM25 through TRAF6-Mediated NF-kappaB Activation","volume":"38","author":"Lee","year":"2015","journal-title":"Mol. Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0250","doi-asserted-by":"crossref","first-page":"649","DOI":"10.1016\/j.immuni.2024.03.004","article-title":"Decoding Toll-like receptors: Recent insights and perspectives in innate immunity","volume":"57","author":"Kawai","year":"2024","journal-title":"Immunity"},{"key":"10.1016\/j.clim.2026.110680_bb0255","doi-asserted-by":"crossref","first-page":"1008","DOI":"10.1038\/s41423-024-01167-5","article-title":"The role of plasmacytoid dendritic cells (pDCs) in immunity during viral infections and beyond","volume":"21","author":"Ngo","year":"2024","journal-title":"Cell. Mol. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0260","doi-asserted-by":"crossref","first-page":"873","DOI":"10.1016\/j.cell.2007.10.017","article-title":"Trex1 exonuclease degrades ssDNA to prevent chronic checkpoint activation and autoimmune disease","volume":"131","author":"Yang","year":"2007","journal-title":"Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0265","doi-asserted-by":"crossref","first-page":"3165","DOI":"10.1038\/s41467-020-16983-2","article-title":"Crystal structures of SAMHD1 inhibitor complexes reveal the mechanism of water-mediated dNTP hydrolysis","volume":"11","author":"Morris","year":"2020","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0270","doi-asserted-by":"crossref","first-page":"91","DOI":"10.1111\/j.1749-6632.2011.06220.x","article-title":"Type I interferonopathies: a novel set of inborn errors of immunity","volume":"1238","author":"Crow","year":"2011","journal-title":"Ann. N. Y. Acad. Sci."},{"key":"10.1016\/j.clim.2026.110680_bb0275","doi-asserted-by":"crossref","first-page":"471","DOI":"10.1038\/s41577-021-00633-9","article-title":"The type I interferonopathies: 10 years on","volume":"22","author":"Crow","year":"2022","journal-title":"Nat. Rev. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0280","doi-asserted-by":"crossref","first-page":"17","DOI":"10.1111\/cei.12160","article-title":"Aicardi-Gouti\u00e8res syndrome: a model disease for systemic autoimmunity","volume":"175","author":"Lee-Kirsch","year":"2014","journal-title":"Clin. Exp. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0285","doi-asserted-by":"crossref","first-page":"133","DOI":"10.1038\/s41584-021-00726-8","article-title":"Janus kinase-targeting therapies in rheumatology: a mechanisms-based approach","volume":"18","author":"Tanaka","year":"2022","journal-title":"Nat. Rev. Rheumatol."},{"key":"10.1016\/j.clim.2026.110680_bb0290","doi-asserted-by":"crossref","first-page":"986","DOI":"10.1056\/NEJMc2001362","article-title":"Janus Kinase Inhibition in the Aicardi-Gouti\u00e8res Syndrome","volume":"383","author":"Vanderver","year":"2020","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2026.110680_bb0295","doi-asserted-by":"crossref","first-page":"829","DOI":"10.1002\/art.40805","article-title":"Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi-Gouti\u00e8res Syndrome, a Type I Interferonopathy","volume":"71","author":"Meesilpavikkai","year":"2019","journal-title":"Arthritis Rheumatol."},{"key":"10.1016\/j.clim.2026.110680_bb0300","doi-asserted-by":"crossref","first-page":"68","DOI":"10.1007\/s10875-024-01672-2","article-title":"Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Gouti\u00e8res Syndrome","volume":"44","author":"Jafarpour","year":"2024","journal-title":"J. Clin. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0305","doi-asserted-by":"crossref","first-page":"324","DOI":"10.1016\/j.ymgme.2022.06.003","article-title":"Hematologic abnormalities in Aicardi Gouti\u00e8res Syndrome","volume":"136","author":"Adang","year":"2022","journal-title":"Mol. Genet. Metab."},{"key":"10.1016\/j.clim.2026.110680_bb0310","doi-asserted-by":"crossref","first-page":"2275","DOI":"10.1056\/NEJMc1810983","article-title":"Reverse-Transcriptase Inhibitors in the Aicardi-Gouti\u00e8res Syndrome","volume":"379","author":"Rice","year":"2018","journal-title":"N. Engl. J. Med."},{"key":"10.1016\/j.clim.2026.110680_bb0315","doi-asserted-by":"crossref","first-page":"1447","DOI":"10.1016\/j.cell.2019.01.016","article-title":"Acetylation Blocks cGAS Activity and Inhibits Self-DNA-Induced Autoimmunity","volume":"176","author":"Dai","year":"2019","journal-title":"Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0320","doi-asserted-by":"crossref","first-page":"1799","DOI":"10.1016\/j.immuni.2022.08.006","article-title":"ABCC1 transporter exports the immunostimulatory cyclic dinucleotide cGAMP","volume":"55","author":"Maltbaek","year":"2022","journal-title":"Immunity"},{"key":"10.1016\/j.clim.2026.110680_bb0325","doi-asserted-by":"crossref","first-page":"750","DOI":"10.1038\/s41467-017-00833-9","article-title":"Small molecule inhibition of cGAS reduces interferon expression in primary macrophages from autoimmune mice","volume":"8","author":"Vincent","year":"2017","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0330","doi-asserted-by":"crossref","first-page":"625","DOI":"10.1016\/j.tibs.2003.11.001","article-title":"SAM domains: uniform structure, diversity of function","volume":"28","author":"Kim","year":"2003","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.clim.2026.110680_bb0335","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1186\/s12943-015-0446-6","article-title":"Regulation of deoxynucleotide metabolism in cancer: novel mechanisms and therapeutic implications","volume":"14","author":"Kohnken","year":"2015","journal-title":"Mol. Cancer"},{"key":"10.1016\/j.clim.2026.110680_bb0340","doi-asserted-by":"crossref","first-page":"46878","DOI":"10.1074\/jbc.M307846200","article-title":"Binding of the C-terminal sterile alpha motif (SAM) domain of human p73 to lipid membranes","volume":"278","author":"Barrera","year":"2003","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clim.2026.110680_bb0345","doi-asserted-by":"crossref","first-page":"49","DOI":"10.1186\/1742-4690-9-49","article-title":"Role of SAMHD1 nuclear localization in restriction of HIV-1 and SIVmac","volume":"9","author":"Brandariz-Nunez","year":"2012","journal-title":"Retrovirology"},{"key":"10.1016\/j.clim.2026.110680_bb0350","doi-asserted-by":"crossref","first-page":"5701","DOI":"10.1128\/JVI.03575-14","article-title":"Degradation of SAMHD1 by Vpx Is Independent of Uncoating","volume":"89","author":"Jauregui","year":"2015","journal-title":"J. Virol."},{"key":"10.1016\/j.clim.2026.110680_bb0355","doi-asserted-by":"crossref","first-page":"654","DOI":"10.1038\/nature10117","article-title":"SAMHD1 is the dendritic- and myeloid-cell-specific HIV-1 restriction factor counteracted by Vpx","volume":"474","author":"Laguette","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.clim.2026.110680_bb0360","doi-asserted-by":"crossref","first-page":"1313","DOI":"10.1126\/science.1221057","article-title":"AIDS\/HIV. HIV interplay with SAMHD1","volume":"335","author":"Schaller","year":"2012","journal-title":"Science"},{"key":"10.1016\/j.clim.2026.110680_bb0365","doi-asserted-by":"crossref","first-page":"234","DOI":"10.1038\/nature12815","article-title":"Structural basis of lentiviral subversion of a cellular protein degradation pathway","volume":"505","author":"Schwefel","year":"2014","journal-title":"Nature"},{"key":"10.1016\/j.clim.2026.110680_bb0370","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1038\/nature10195","article-title":"Vpx relieves inhibition of HIV-1 infection of macrophages mediated by the SAMHD1 protein","volume":"474","author":"Hrecka","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.clim.2026.110680_bb0375","doi-asserted-by":"crossref","DOI":"10.1371\/journal.ppat.1002425","article-title":"SAMHD1-deficient CD14+ cells from individuals with Aicardi-Gouti\u00e8res syndrome are highly susceptible to HIV-1 infection","volume":"7","author":"Berger","year":"2011","journal-title":"PLoS Pathog."},{"key":"10.1016\/j.clim.2026.110680_bb0380","doi-asserted-by":"crossref","first-page":"469","DOI":"10.1016\/S0968-0004(98)01293-6","article-title":"The HD domain defines a new superfamily of metal-dependent phosphohydrolases","volume":"23","author":"Aravind","year":"1998","journal-title":"Trends Biochem. Sci."},{"key":"10.1016\/j.clim.2026.110680_bb0385","doi-asserted-by":"crossref","first-page":"8101","DOI":"10.1074\/jbc.M112.431148","article-title":"Nuclease activity of the human SAMHD1 protein implicated in the Aicardi-Gouti\u00e8res syndrome and HIV-1 restriction","volume":"288","author":"Beloglazova","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clim.2026.110680_bb0390","doi-asserted-by":"crossref","first-page":"13279","DOI":"10.1074\/jbc.M115.646588","article-title":"CyclinA2-Cyclin-dependent Kinase Regulates SAMHD1 Protein Phosphohydrolase Domain","volume":"290","author":"Yan","year":"2015","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clim.2026.110680_bb0395","article-title":"A Cyclin-Binding Motif in Human SAMHD1 Is Required for Its HIV-1 Restriction, dNTPase Activity, Tetramer Formation, and Efficient Phosphorylation","volume":"92","author":"St","year":"2018","journal-title":"J. Virol."},{"key":"10.1016\/j.clim.2026.110680_bb0400","doi-asserted-by":"crossref","first-page":"26332","DOI":"10.1074\/jbc.M116.753947","article-title":"A Putative Cyclin-binding Motif in Human SAMHD1 Contributes to Protein Phosphorylation, Localization, and Stability","volume":"291","author":"St","year":"2016","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clim.2026.110680_bb0405","doi-asserted-by":"crossref","first-page":"2722","DOI":"10.1038\/ncomms3722","article-title":"Structural insight into dGTP-dependent activation of tetrameric SAMHD1 deoxynucleoside triphosphate triphosphohydrolase","volume":"4","author":"Zhu","year":"2013","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0410","doi-asserted-by":"crossref","first-page":"379","DOI":"10.1038\/nature10623","article-title":"HIV-1 restriction factor SAMHD1 is a deoxynucleoside triphosphate triphosphohydrolase","volume":"480","author":"Goldstone","year":"2011","journal-title":"Nature"},{"key":"10.1016\/j.clim.2026.110680_bb0415","doi-asserted-by":"crossref","first-page":"12443","DOI":"10.1093\/nar\/gkad971","article-title":"Guanine-containing ssDNA and RNA induce dimeric and tetrameric structural forms of SAMHD1","volume":"51","author":"Orris","year":"2023","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.clim.2026.110680_bb0420","doi-asserted-by":"crossref","first-page":"E4305","DOI":"10.1073\/pnas.1412289111","article-title":"Structural basis of cellular dNTP regulation by SAMHD1","volume":"111","author":"Ji","year":"2014","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.clim.2026.110680_bb0425","doi-asserted-by":"crossref","first-page":"1953","DOI":"10.1182\/blood.2023022241","article-title":"SOX11 is a novel binding partner and endogenous inhibitor of SAMHD1 ara-CTPase activity in mantle cell lymphoma","volume":"143","author":"Abdelrazak","year":"2024","journal-title":"Blood"},{"key":"10.1016\/j.clim.2026.110680_bb0430","doi-asserted-by":"crossref","first-page":"977","DOI":"10.1016\/j.bbrc.2016.07.013","article-title":"SAMHD1, the Aicardi-Gouti\u00e8res syndrome gene and retroviral restriction factor, is a phosphorolytic ribonuclease rather than a hydrolytic ribonuclease","volume":"477","author":"Ryoo","year":"2016","journal-title":"Biochem. Biophys. Res. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0435","doi-asserted-by":"crossref","first-page":"46","DOI":"10.1186\/s12977-015-0174-4","article-title":"SAMHD1 specifically restricts retroviruses through its RNase activity","volume":"12","author":"Choi","year":"2015","journal-title":"Retrovirology"},{"key":"10.1016\/j.clim.2026.110680_bb0440","doi-asserted-by":"crossref","first-page":"1072","DOI":"10.1038\/nm.4163","article-title":"SAMHD1-mediated HIV-1 restriction in cells does not involve ribonuclease activity","volume":"22","author":"Antonucci","year":"2016","journal-title":"Nat. Med."},{"key":"10.1016\/j.clim.2026.110680_bb0445","first-page":"1801","article-title":"SAMHD1 associates with inflammation and vasculitis in paediatric-onset systemic lupus erythematosus","volume":"40","author":"Zhao","year":"2022","journal-title":"Clin. Exp. Rheumatol."},{"key":"10.1016\/j.clim.2026.110680_bb0450","doi-asserted-by":"crossref","first-page":"601","DOI":"10.1136\/annrheumdis-2021-221814","article-title":"The 2021 European Alliance of Associations for Rheumatology\/American College of Rheumatology points to consider for diagnosis and management of autoinflammatory type I interferonopathies: CANDLE\/PRAAS, SAVI and AGS","volume":"81","author":"Cetin","year":"2022","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.clim.2026.110680_bb0455","doi-asserted-by":"crossref","DOI":"10.3389\/fped.2022.1048002","article-title":"Aicardi-Gouti\u00e8res syndrome with SAMHD1 deficiency can be diagnosed by unscheduled DNA synthesis test","volume":"10","author":"Senju","year":"2022","journal-title":"Front. Pediatr."},{"key":"10.1016\/j.clim.2026.110680_bb0460","doi-asserted-by":"crossref","DOI":"10.1073\/pnas.1104699108","article-title":"Cerebral vasculopathy is a common feature in Aicardi-Gouti\u00e8res syndrome associated with SAMHD1 mutations","volume":"108","author":"du Moulin","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.clim.2026.110680_bb0465","doi-asserted-by":"crossref","first-page":"5372","DOI":"10.1073\/pnas.1014265108","article-title":"Homozygous mutation in SAMHD1 gene causes cerebral vasculopathy and early onset stroke","volume":"108","author":"Xin","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"10.1016\/j.clim.2026.110680_bb0470","doi-asserted-by":"crossref","first-page":"725","DOI":"10.1111\/j.1469-8749.2010.03727.x","article-title":"Intracerebral large artery disease in Aicardi-Gouti\u00e8res syndrome implicates SAMHD1 in vascular homeostasis","volume":"52","author":"Ramesh","year":"2010","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0475","doi-asserted-by":"crossref","first-page":"E1836","DOI":"10.1002\/humu.21357","article-title":"Cerebral arterial stenoses and stroke: novel features of Aicardi-Gouti\u00e8res syndrome caused by the Arg164X mutation in SAMHD1 are associated with altered cytokine expression","volume":"31","author":"Thiele","year":"2010","journal-title":"Hum. Mutat."},{"key":"10.1016\/j.clim.2026.110680_bb0480","doi-asserted-by":"crossref","first-page":"938","DOI":"10.1002\/ajmg.a.33359","article-title":"Familial Aicardi-Gouti\u00e8res syndrome due to SAMHD1 mutations is associated with chronic arthropathy and contractures","volume":"152A","author":"Dale","year":"2010","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2026.110680_bb0485","doi-asserted-by":"crossref","DOI":"10.1136\/annrheumdis-2013-204845","article-title":"SAMHD1 prevents autoimmunity by maintaining genome stability","volume":"74","author":"Kretschmer","year":"2015","journal-title":"Ann. Rheum. Dis."},{"key":"10.1016\/j.clim.2026.110680_bb0490","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1009523","article-title":"Aicardi-Gouti\u00e8res syndrome-associated gene SAMHD1 preserves genome integrity by preventing R-loop formation at transcription-replication conflict regions","volume":"17","author":"Park","year":"2021","journal-title":"PLoS Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0495","doi-asserted-by":"crossref","first-page":"398","DOI":"10.1016\/j.molcel.2019.01.024","article-title":"R-Loops as Cellular Regulators and Genomic Threats","volume":"73","author":"Crossley","year":"2019","journal-title":"Mol. Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0500","doi-asserted-by":"crossref","first-page":"487","DOI":"10.1016\/j.molcel.2018.06.037","article-title":"Genome-wide Map of R-Loop-Induced Damage Reveals How a Subset of R-Loops Contributes to Genomic Instability","volume":"71","author":"Costantino","year":"2018","journal-title":"Mol. Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0505","doi-asserted-by":"crossref","first-page":"2267","DOI":"10.1016\/j.molcel.2022.04.014","article-title":"Walking a tightrope: The complex balancing act of R-loops in genome stability","volume":"82","author":"Brickner","year":"2022","journal-title":"Mol. Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0510","doi-asserted-by":"crossref","first-page":"4265","DOI":"10.1038\/s41467-019-12271-w","article-title":"MRE11-RAD50-NBS1 promotes Fanconi Anemia R-loop suppression at transcription-replication conflicts","volume":"10","author":"Chang","year":"2019","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0515","doi-asserted-by":"crossref","DOI":"10.7554\/eLife.08007","article-title":"Genome-wide DNA hypomethylation and RNA:DNA hybrid accumulation in Aicardi-Gouti\u00e8res syndrome","volume":"4","author":"Lim","year":"2015","journal-title":"Elife"},{"key":"10.1016\/j.clim.2026.110680_bb0520","doi-asserted-by":"crossref","first-page":"1021","DOI":"10.1182\/blood-2013-04-490847","article-title":"SAMHD1 is mutated recurrently in chronic lymphocytic leukemia and is involved in response to DNA damage","volume":"123","author":"Clifford","year":"2014","journal-title":"Blood"},{"key":"10.1016\/j.clim.2026.110680_bb0525","doi-asserted-by":"crossref","first-page":"1921","DOI":"10.1016\/j.celrep.2017.08.008","article-title":"SAMHD1 promotes DNA End resection to facilitate DNA repair by homologous recombination","volume":"20","author":"Daddacha","year":"2017","journal-title":"Cell Rep."},{"key":"10.1016\/j.clim.2026.110680_bb0530","doi-asserted-by":"crossref","first-page":"402","DOI":"10.1016\/j.tcb.2010.04.002","article-title":"DNA damage and decisions: CtIP coordinates DNA repair and cell cycle checkpoints","volume":"20","author":"You","year":"2010","journal-title":"Trends Cell Biol."},{"key":"10.1016\/j.clim.2026.110680_bb0535","doi-asserted-by":"crossref","first-page":"57","DOI":"10.1038\/s41586-018-0050-1","article-title":"SAMHD1 acts at stalled replication forks to prevent interferon induction","volume":"557","author":"Coquel","year":"2018","journal-title":"Nature"},{"key":"10.1016\/j.clim.2026.110680_bb0540","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1016\/j.radonc.2017.09.043","article-title":"ATR\/CHK1 inhibitors and cancer therapy","volume":"126","author":"Qiu","year":"2018","journal-title":"Radiother. Oncol."},{"key":"10.1016\/j.clim.2026.110680_bb0545","doi-asserted-by":"crossref","first-page":"254","DOI":"10.1016\/j.tim.2018.09.009","article-title":"SAMHD1 Suppression of Antiviral Immune Responses","volume":"27","author":"Chen","year":"2019","journal-title":"Trends Microbiol."},{"key":"10.1016\/j.clim.2026.110680_bb0550","doi-asserted-by":"crossref","first-page":"51","DOI":"10.1146\/annurev-pathmechdis-012419-032633","article-title":"Our conflict with transposable elements and its implications for human disease","volume":"15","author":"Burns","year":"2020","journal-title":"Annu. Rev. Pathol."},{"key":"10.1016\/j.clim.2026.110680_bb0555","doi-asserted-by":"crossref","first-page":"194","DOI":"10.1038\/s41586-023-06947-z","article-title":"Structures, functions and adaptations of the human LINE-1 ORF2 protein","volume":"626","author":"Baldwin","year":"2024","journal-title":"Nature"},{"key":"10.1016\/j.clim.2026.110680_bb0560","doi-asserted-by":"crossref","first-page":"5899","DOI":"10.1093\/emboj\/cdf592","article-title":"Human L1 element target-primed reverse transcription in vitro","volume":"21","author":"Cost","year":"2002","journal-title":"EMBO J."},{"key":"10.1016\/j.clim.2026.110680_bb0565","doi-asserted-by":"crossref","first-page":"2686","DOI":"10.1002\/art.39795","article-title":"Expression of long interspersed nuclear element 1 retroelements and induction of type I interferon in patients with systemic autoimmune disease","volume":"68","author":"Mavragani","year":"2016","journal-title":"Arthritis Rheumatol."},{"key":"10.1016\/j.clim.2026.110680_bb0570","doi-asserted-by":"crossref","first-page":"4974","DOI":"10.1038\/s41467-023-40743-7","article-title":"LINE-1 regulates cortical development by acting as long non-coding RNAs","volume":"14","author":"Mangoni","year":"2023","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0575","doi-asserted-by":"crossref","first-page":"2","DOI":"10.1186\/s13100-019-0194-z","article-title":"Comparative analysis on the expression of L1 loci using various RNA-Seq preparations","volume":"11","author":"Kaul","year":"2020","journal-title":"Mob. DNA"},{"key":"10.1016\/j.clim.2026.110680_bb0580","doi-asserted-by":"crossref","first-page":"1108","DOI":"10.1016\/j.celrep.2013.08.019","article-title":"Modulation of LINE-1 and Alu\/SVA retrotransposition by Aicardi-Gouti\u00e8res syndrome-related SAMHD1","volume":"4","author":"Zhao","year":"2013","journal-title":"Cell Rep."},{"key":"10.1016\/j.clim.2026.110680_bb0585","doi-asserted-by":"crossref","first-page":"11","DOI":"10.1186\/s13100-018-0116-5","article-title":"The SAMHD1-mediated block of LINE-1 retroelements is regulated by phosphorylation","volume":"9","author":"Herrmann","year":"2018","journal-title":"Mob. DNA"},{"key":"10.1016\/j.clim.2026.110680_bb0590","doi-asserted-by":"crossref","first-page":"C273","DOI":"10.1152\/ajpcell.00314.2002","article-title":"Mammalian stress granules represent sites of accumulation of stalled translation initiation complexes","volume":"284","author":"Kimball","year":"2003","journal-title":"Am. J. Phys. Cell Physiol."},{"key":"10.1016\/j.clim.2026.110680_bb0595","doi-asserted-by":"crossref","DOI":"10.1371\/journal.pgen.1005367","article-title":"SAMHD1 inhibits LINE-1 retrotransposition by promoting stress granule formation","volume":"11","author":"Hu","year":"2015","journal-title":"PLoS Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0600","doi-asserted-by":"crossref","first-page":"3227","DOI":"10.1242\/jcs.115.16.3227","article-title":"Stressful initiations","volume":"115","author":"Anderson","year":"2002","journal-title":"J. Cell Sci."},{"key":"10.1016\/j.clim.2026.110680_bb0605","first-page":"53","article-title":"Modulation of LINE-1 Retrotransposition by a Human SAMHD1 Polymorphism","volume":"6","author":"White","year":"2016","journal-title":"Virol. Rep."},{"key":"10.1016\/j.clim.2026.110680_bb0610","doi-asserted-by":"crossref","DOI":"10.1016\/j.molcel.2022.08.031","article-title":"SAMHD1 controls innate immunity by regulating condensation of immunogenic self RNA","volume":"82","author":"Maharana","year":"2022","journal-title":"Mol. Cell"},{"key":"10.1016\/j.clim.2026.110680_bb0615","doi-asserted-by":"crossref","first-page":"6486","DOI":"10.1093\/nar\/gkv633","article-title":"SAMHD1 is a single-stranded nucleic acid binding protein with no active site-associated nuclease activity","volume":"43","author":"Seamon","year":"2015","journal-title":"Nucleic Acids Res."},{"key":"10.1016\/j.clim.2026.110680_bb0620","article-title":"SAMHD1 restricts HIV-1 replication and regulates interferon production in mouse myeloid cells","volume":"9","author":"Zhang","year":"2014","journal-title":"PLoS One"},{"key":"10.1016\/j.clim.2026.110680_bb0625","doi-asserted-by":"crossref","first-page":"689","DOI":"10.1016\/j.celrep.2013.07.037","article-title":"Mouse SAMHD1 has antiretroviral activity and suppresses a spontaneous cell-intrinsic antiviral response","volume":"4","author":"Behrendt","year":"2013","journal-title":"Cell Rep."},{"key":"10.1016\/j.clim.2026.110680_bb0630","doi-asserted-by":"crossref","first-page":"2427","DOI":"10.1038\/emboj.2013.190","article-title":"The SAMHD1 knockout mouse model: in vivo veritas?","volume":"32","author":"Roesch","year":"2013","journal-title":"EMBO J."},{"key":"10.1016\/j.clim.2026.110680_bb0635","doi-asserted-by":"crossref","first-page":"3775","DOI":"10.1038\/s41467-024-48237-w","article-title":"Platform-directed allostery and quaternary structure dynamics of SAMHD1 catalysis","volume":"15","author":"Acton","year":"2024","journal-title":"Nat. Commun."},{"key":"10.1016\/j.clim.2026.110680_bb0640","doi-asserted-by":"crossref","first-page":"2819","DOI":"10.4049\/jimmunol.1403157","article-title":"Characterization of samhd1 morphant zebrafish recapitulates features of the human type I interferonopathy Aicardi-Gouti\u00e8res syndrome","volume":"194","author":"Kasher","year":"2015","journal-title":"J. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0645","doi-asserted-by":"crossref","first-page":"1100967","DOI":"10.3389\/fimmu.2023.1100967","article-title":"Characterization of a mutant samhd1 zebrafish model implicates dysregulation of cholesterol biosynthesis in Aicardi-Gouti\u00e8res syndrome","volume":"14","author":"Withers","year":"2023","journal-title":"Front. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0650","doi-asserted-by":"crossref","first-page":"42","DOI":"10.1111\/dmcn.14268","article-title":"Treatments in Aicardi-Gouti\u00e8res syndrome","volume":"62","author":"Crow","year":"2020","journal-title":"Dev. Med. Child Neurol."},{"key":"10.1016\/j.clim.2026.110680_bb0655","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1080\/1744666X.2019.1707663","article-title":"Novel and emerging treatments for Aicardi-Gouti\u00e8res syndrome","volume":"16","author":"Tonduti","year":"2020","journal-title":"Expert Rev. Clin. Immunol."},{"key":"10.1016\/j.clim.2026.110680_bb0660","first-page":"1","article-title":"Exploring emerging JAK inhibitors in the treatment of Aicardi-Gouti\u00e8res syndrome","author":"Politano","year":"2024","journal-title":"Expert Opin. Emerg. Drugs"},{"key":"10.1016\/j.clim.2026.110680_bb0665","doi-asserted-by":"crossref","first-page":"4915","DOI":"10.1128\/AAC.02745-14","article-title":"SAMHD1 has differential impact on the efficacies of HIV nucleoside reverse transcriptase inhibitors","volume":"58","author":"Huber","year":"2014","journal-title":"Antimicrob. Agents Chemother."},{"key":"10.1016\/j.clim.2026.110680_bb0670","doi-asserted-by":"crossref","first-page":"20683","DOI":"10.1074\/jbc.M113.472159","article-title":"Anti-HIV host factor SAMHD1 regulates viral sensitivity to nucleoside reverse transcriptase inhibitors via modulation of cellular deoxyribonucleoside triphosphate (dNTP) levels","volume":"288","author":"Amie","year":"2013","journal-title":"J. Biol. Chem."},{"key":"10.1016\/j.clim.2026.110680_bb0675","doi-asserted-by":"crossref","first-page":"351","DOI":"10.1007\/s00109-021-02131-w","article-title":"SAMHD1 in cancer: curse or cure?","volume":"100","author":"Schott","year":"2022","journal-title":"J. Mol. Med. (Berl.)"},{"key":"10.1016\/j.clim.2026.110680_bb0680","doi-asserted-by":"crossref","first-page":"1469","DOI":"10.1002\/art.27367","article-title":"Expanding the phenotypic spectrum of lupus erythematosus in Aicardi-Gouti\u00e8res syndrome","volume":"62","author":"Ramantani","year":"2010","journal-title":"Arthritis Rheum."},{"key":"10.1016\/j.clim.2026.110680_bb0685","doi-asserted-by":"crossref","first-page":"132","DOI":"10.1159\/000518941","article-title":"Aicardi-Gouti\u00e8res Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts","volume":"13","author":"Oleksy","year":"2022","journal-title":"Mol. Syndromol."},{"key":"10.1016\/j.clim.2026.110680_bb0690","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1055\/s-0036-1592307","article-title":"Neurologic Phenotypes Associated with Mutations in TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, and IFIH1: Aicardi-Gouti\u00e8res Syndrome and Beyond","volume":"47","author":"Livingston","year":"2016","journal-title":"Neuropediatrics"},{"key":"10.1016\/j.clim.2026.110680_bb0695","doi-asserted-by":"crossref","first-page":"156","DOI":"10.1002\/ajmg.a.38522","article-title":"p.Arg69Trp in RNASEH2C is a founder variant in three Indian families with Aicardi-Gouti\u00e8res syndrome","volume":"176","author":"Hebbar","year":"2018","journal-title":"Am. J. Med. Genet. A"},{"key":"10.1016\/j.clim.2026.110680_bb0700","doi-asserted-by":"crossref","first-page":"76","DOI":"10.1136\/jmedgenet-2013-102038","article-title":"A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1","volume":"51","author":"Livingston","year":"2014","journal-title":"J. Med. Genet."},{"key":"10.1016\/j.clim.2026.110680_bb0705","doi-asserted-by":"crossref","first-page":"815","DOI":"10.1002\/ajmg.a.36360","article-title":"Bilateral striatal necrosis in two subjects with Aicardi-Gouti\u00e8res syndrome due to mutations in ADAR1 (AGS6)","volume":"164A","author":"La Piana","year":"2014","journal-title":"Am. J. Med. Genet. A"}],"container-title":["Clinical Immunology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661626000185?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1521661626000185?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,4,21]],"date-time":"2026-04-21T15:28:23Z","timestamp":1776785303000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1521661626000185"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2026,4]]},"references-count":141,"alternative-id":["S1521661626000185"],"URL":"https:\/\/doi.org\/10.1016\/j.clim.2026.110680","relation":{},"ISSN":["1521-6616"],"issn-type":[{"value":"1521-6616","type":"print"}],"subject":[],"published":{"date-parts":[[2026,4]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Aicardi-Gouti\u00e8res Syndrome caused by SAMHD1 mutation: Pathogenesis and Beyond","name":"articletitle","label":"Article Title"},{"value":"Clinical Immunology","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1016\/j.clim.2026.110680","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"\u00a9 2026 Elsevier Inc. All rights are reserved, including those for text and data mining, AI training, and similar technologies.","name":"copyright","label":"Copyright"}],"article-number":"110680"}}