Research & Literature

Unusual cutaneous features associated with a heterozygous gain-of-function mutation in IFIH1: overlap between Aicardi-Goutières and Singleton-Merten syndromes.

Bursztejn AC, Briggs TA, del Toro Duany Y, et al.

The British journal of dermatology 2015; (173(6)):1505-13 doi:10.1111/bjd.14073.

Clinical, radiological and possible pathological overlap of cystic leukoencephalopathy without megalencephaly and Aicardi-Goutières syndrome.

Tonduti D, Orcesi S, Jenkinson EM, et al.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society 2016; (20(4)):604-10.

Clinical and neuroradiologic variability of Aicardi-Goutiéres syndrome: Two siblings with RNASEH2C mutation and a boy with TREX1 mutation.

Uyur Yalçın E, Maraş Genç H, Kara B

The Turkish journal of pediatrics 2015; (57(5)):504-8.

[Aicardi-Goutieres syndrome due to mutation of the IFIH1 gene with pontine involvement. A case report].

Florido-Rodriguez A, Eiris-Punal J, Barros-Angueira F, et al.

Revista de neurologia 2016; (63(7)):309-14.

Neonatal detection of Aicardi Goutières Syndrome by increased C26:0 lysophosphatidylcholine and interferon signature on newborn screening blood spots.

Armangue T, Orsini JJ, Takanohashi A, et al.

Molecular genetics and metabolism 2017; (122(3)):134-139 doi:10.1016/j.ymgme.2017.07.006.

Late diagnosis and atypical brain imaging of Aicardi-Goutières syndrome: are we failing to diagnose Aicardi-Goutières syndrome-2?

Svingen L, Goheen M, Godfrey R, et al.

Developmental medicine and child neurology 2017; (59(12)):1307-1311 doi:10.1111/dmcn.13509.

Phenotypic and Molecular Spectrum of Aicardi-Goutières Syndrome: A Study of 24 Patients.

Al Mutairi F, Alfadhel M, Nashabat M, et al.

Pediatric neurology 2018; (78()):35-40 doi:10.1016/j.pediatrneurol.2017.09.002.

A central role for PI3K-AKT signaling pathway in linking SAMHD1-deficiency to the type I interferon signature.

Oh C, Ryoo J, Park K, et al.

Scientific reports 2018; (8(1)):84 doi:10.1038/s41598-017-18308-8.

Aicardi-Goutières Syndrome: Brief Case Report.

Moscote-Salazar LR, Calderon-Miranda WG, Deluquez Baute RV, et al.

Journal of pediatric neurosciences 2018; (13(1)):88-90 doi:10.4103/JPN.JPN_67_17.

Aicardi goutières syndrome is associated with pulmonary hypertension.

Adang LA, Frank DB, Gilani A, et al.

Molecular genetics and metabolism 2018; (125(4)):351-358 doi:10.1016/j.ymgme.2018.09.004.

Sine causa tetraparesis: A pilot study on its possible relationship with interferon signature analysis and Aicardi Goutières syndrome related genes analysis.

Galli J, Gavazzi F, De Simone M, et al.

Medicine 2018; (97(52)):e13893 doi:10.1097/MD.0000000000013893.

Multiple Autoimmune Disorders in Aicardi-Goutières Syndrome.

Samanta D, Ramakrishnaiah R, Crary SE, et al.

Pediatric neurology 2019; (96()):37-39 doi:10.1016/j.pediatrneurol.2019.01.017.

Developmental Outcomes of Aicardi Goutières Syndrome.

Adang L, Gavazzi F, De Simone M, et al.

Journal of child neurology 2020; (35(1)):7-16 doi:10.1177/0883073819870944.

Alagille Syndrome and Chronic Arthritis: An International Case Series.

Ferrara G, Giani T, Lieberman SM, et al.

The Journal of pediatrics 2020; (218()):228-230.e1 doi:10.1016/j.jpeds.2019.10.042.

Generation of three induced pluripotent cell lines (iPSCs) from an Aicardi-Goutières syndrome (AGS) patient harboring a deletion in the genomic locus of the sterile alpha motif and HD domain containing protein 1 (SAMHD1).

Fuchs NV, Schieck M, Neuenkirch M, et al.

Stem cell research 2020; (43()):101697 doi:10.1016/j.scr.2019.101697.

Diagnosis of Aicardi-Goutières Syndrome in Adults: A Case Series.

Videira G, Malaquias MJ, Laranjinha I, et al.

Movement disorders clinical practice 2020; (7(3)):303-307 doi:10.1002/mdc3.12903.

Intracerebral large artery disease in Aicardi-Goutières syndrome with TREX1 mutation: a case report.

Wu CC, Peng SS, Lee WT

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2020; (41(11)):3353-3356 doi:10.1007/s10072-020-04516-0.

PNPT1 mutations may cause Aicardi-Goutières-Syndrome.

Bamborschke D, Kreutzer M, Koy A, et al.

Brain & development 2021; (43(2)):320-324 doi:10.1016/j.braindev.2020.10.005.

cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.

Uggenti C, Lepelley A, Depp M, et al.

Nature genetics 2020; (52(12)):1364-1372 doi:10.1038/s41588-020-00737-3.

Endocrinopathies in Aicardi Goutières syndrome-A descriptive case series.

Worth C, Briggs TA, Padidela R, et al.

Clinical case reports 2020; (8(11)):2181-2185 doi:10.1002/ccr3.3081.

Hepatic Involvement in Aicardi-Goutières Syndrome.

Gavazzi F, Cross ZM, Woidill S, et al.

Neuropediatrics 2021; (52(6)):441-447 doi:10.1055/s-0040-1722673.

Anesthesia for a Patient With Aicardi-Goutières Syndrome: A First Case Report.

Swenson Schalkwyk AK, Agarwal R

A&A practice 2021; (15(3)):e01410 doi:10.1213/XAA.0000000000001410.

Ruxolitinib in Aicardi-Goutières syndrome.

Mura E, Masnada S, Antonello C, et al.

Metabolic brain disease 2021; (36(5)):859-863 doi:10.1007/s11011-021-00716-5.

Collapsing Glomerulopathy as a Complication of Type I Interferon-Mediated Glomerulopathy in a Patient With RNASEH2B-Related Aicardi-Goutières Syndrome.

Fenaroli P, Rossi GM, Angelotti ML, et al.

American journal of kidney diseases : the official journal of the National Kidney Foundation 2021; (78(5)):750-754 doi:10.1053/j.ajkd.2021.02.330.

[Aicardi-Goutieres syndrome: a family case due to alteration of the RNASEH2B gene].

Viguera-Elías D, de la Iglesia-Nagore I, Toledo-Gotor C, et al.

Revista de neurologia 2021; (72(11)):407-409 doi:10.33588/rn.7211.2021071.

Severe diarrhea in a 10-year-old girl with Aicardi-Goutières syndrome due to IFIH1 gene mutation.

Lu M, Zhu K, Zheng Q, et al.

American journal of medical genetics. Part A 2021; (185(10)):3146-3152 doi:10.1002/ajmg.a.62397.

Phenotypic variability of a TREX1 variant in Aicardi-Goutieres type 1 patients from the Indian subcontinent.

Abraham SSC, Yoganathan S, Koshy B, et al.

European journal of medical genetics 2021; (64(9)):104291 doi:10.1016/j.ejmg.2021.104291.

ADAR1 interaction with Z-RNA promotes editing of endogenous double-stranded RNA and prevents MDA5-dependent immune activation.

de Reuver R, Dierick E, Wiernicki B, et al.

Cell reports 2021; (36(6)):109500 doi:10.1016/j.celrep.2021.109500.

Cerebrospinal fluid neopterin as a biomarker of treatment response to Janus kinase inhibition in Aicardi-Goutières syndrome.

Han VX, Mohammad SS, Jones HF, et al.

Developmental medicine and child neurology 2022; (64(2)):266-271 doi:10.1111/dmcn.15025.

Autosomal dominant ADAR c.3019G>A (p.(G1007R)) variant is an important mimic of hereditary spastic paraplegia and cerebral palsy.

Jones HF, Stoll M, Ho G, et al.

Brain & development 2022; (44(2)):153-160 doi:10.1016/j.braindev.2021.10.001.

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.

Cetin Gedik K, Lamot L, Romano M, et al.

Annals of the rheumatic diseases 2022; (81(5)):601-613 doi:10.1136/annrheumdis-2021-221814.

Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutières Syndrome with Severe End-Organ Involvement.

Naesens L, Nemegeer J, Roelens F, et al.

Journal of clinical immunology 2022; (42(5)):962-974 doi:10.1007/s10875-022-01209-5.

Janus Kinase Inhibitors in the Treatment of Type I Interferonopathies: A Case Series From a Single Center in China.

Li W, Wang W, Wang W, et al.

Frontiers in immunology 2022; (13()):825367 doi:10.3389/fimmu.2022.825367.

Analysis of clinical characteristics of children with Aicardi-Goutieres syndrome in China.

Wang W, Wang W, He TY, et al.

World journal of pediatrics : WJP 2022; (18(7)):490-497 doi:10.1007/s12519-022-00545-1.

Hematologic abnormalities in Aicardi Goutières Syndrome.

Adang LA, Gavazzi F, D'Aiello R, et al.

Molecular genetics and metabolism 2022; (136(4)):324-329 doi:10.1016/j.ymgme.2022.06.003.

Case Report: Aicardi-Goutières Syndrome Type 6 and Dyschromatosis Symmetrica Hereditaria With Congenital Heart Disease and Mitral Valve Calcification - Phenotypic Variants Caused by Adenosine Deaminase Acting on the RNA 1 Gene Homozygous Mutations.

Liu L, Zhang L, Huang P, et al.

Frontiers in pediatrics 2022; (10()):852903 doi:10.3389/fped.2022.852903.

[Aicardi-Goutieres syndrome: a Mendelian mimic of congenital infection].

Lebon P

Virologie (Montrouge, France) 2009; (13(6)):297-304 doi:10.1684/13-6.2011.297-304-article-1.

JAK: Not Just Another Kinase.

Agashe RP, Lippman SM, Kurzrock R

Molecular cancer therapeutics 2022; (21(12)):1757-1764 doi:10.1158/1535-7163.MCT-22-0323.

Aicardi-Goutières syndrome (AGS): recurrent fetal cardiomyopathy and pseudo-TORCH syndrome.

Panigrahy N, Bakhru S, Lingappa L, Chirla D

BMJ case reports 2022; (15(12)) doi:10.1136/bcr-2022-249192.

Clinical spectrum and currently available treatment of type I interferonopathy Aicardi-Goutières syndrome.

Dell'Isola GB, Dini G, Culpepper KL, et al.

World journal of pediatrics : WJP 2023; (19(7)):635-643 doi:10.1007/s12519-022-00679-2.

Case report: Pneumocystis jirovecii pneumonia in a severe case of Aicardi-Goutières syndrome with an IFIH1 gain-of-function mutation mimicking combined immunodeficiency.

Železnik M, Soltirovska Šalamon A, Debeljak M, et al.

Frontiers in immunology 2022; (13()):1033513 doi:10.3389/fimmu.2022.1033513.

JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study.

Frémond ML, Hully M, Fournier B, et al.

Journal of clinical immunology 2023; (43(6)):1436-1447 doi:10.1007/s10875-023-01500-z.

Exploration of Gross Motor Function in Aicardi-Goutières Syndrome.

Gavazzi F, Glanzman AM, Woidill S, et al.

Journal of child neurology 2023; (38(8-9)):518-527 doi:10.1177/08830738231188753.

Aicardi-Goutières syndrome: A monogenic type I interferonopathy.

Liu A, Ying S

Scandinavian journal of immunology 2023; (98(4)):e13314 doi:10.1111/sji.13314.

Treatment response to Janus kinase inhibitor in a child affected by Aicardi-Goutières syndrome.

Galli J, Cattalini M, Loi E, et al.

Clinical case reports 2023; (11(8)):e7724 doi:10.1002/ccr3.7724.

Dyschromatosis symmetrica hereditaria: A clue to early diagnosis of Aicardi-Goutières syndrome.

Ahmed F, Do N, Vanderver AL, Treat JR

Pediatric dermatology 2024; (41(1)):156-157 doi:10.1111/pde.15437.

SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutières syndrome.

Karla AR, Pinard A, Boerio ML, et al.

American journal of medical genetics. Part A 2024; (194(4)):e63486 doi:10.1002/ajmg.a.63486.

TREX-1 related Aicardi-Goutières syndrome improved by Janus kinase inhibitor.

Ryckmans C, Donge M, Marchèse A, et al.

American journal of medical genetics. Part A 2024; (194(5)):e63510 doi:10.1002/ajmg.a.63510.

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Shim A, Luan X, Zhou W, et al.

bioRxiv : the preprint server for biology 2024; doi:10.1101/2024.01.04.574136.

Systematic analysis of genotype-phenotype variability in siblings with Aicardi Goutières Syndrome (AGS).

de Barcelos IP, Woidill S, Gavazzi F, et al.

Molecular genetics and metabolism 2024; (142(1)):108346 doi:10.1016/j.ymgme.2024.108346.

Neuropathologic Impacts of JAK Inhibitor Treatment in Aicardi-Goutières Syndrome.

Jafarpour S, Suddock J, Hawes D, Santoro JD

Journal of clinical immunology 2024; (44(3)):68 doi:10.1007/s10875-024-01672-2.

Nucleotide metabolism, leukodystrophies, and CNS pathology.

Gavazzi F, Gonzalez CD, Arnold K, et al.

Journal of inherited metabolic disease 2024; (47(5)):860-875 doi:10.1002/jimd.12721.

Neurological Findings and a Brief Review of the Current Literature in a Severe Case of Aicardi-Goutières Syndrome Due to an IFIH1 Mutation.

Železnik M, Vesnaver TV, Neubauer D, Soltirovska-Šalamon A

Neuropediatrics 2024; (55(5)):337-340 doi:10.1055/a-2321-0597.

Mutations in the non-catalytic polyproline motif destabilize TREX1 and amplify cGAS-STING signaling.

Shim A, Luan X, Zhou W, et al.

Human molecular genetics 2024; (33(18)):1555-1566 doi:10.1093/hmg/ddae089.

IFN-signaling gene expression as a diagnostic biomarker for monogenic interferonopathies.

Adang LA, D'Aiello R, Takanohashi A, et al.

JCI insight 2024; (9(14)).

Childhood-inherited white matter disorders with calcification.

Livingston JH

Handbook of clinical neurology 2024; (204()):95-109 doi:10.1016/B978-0-323-99209-1.00013-2.

Systemic complications of Aicardi Goutières syndrome using real-world data.

Peixoto de Barcelos I, Jan AK, Modesti N, et al.

Molecular genetics and metabolism 2024; (143(1-2)):108578 doi:10.1016/j.ymgme.2024.108578.

An overview of genetic mutations in Aicardi-Goutières syndrome in Iranian population.

Khalilian S, Fathi M, Miryounesi M, Ghafouri-Fard S

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology 2025; (46(2)):999-1007 doi:10.1007/s10072-024-07824-x.

The prototypical interferonopathy: Aicardi-Goutières syndrome from bedside to bench.

Hofer MJ, Modesti N, Coufal NG, et al.

Immunological reviews 2024; (327(1)):83-99 doi:10.1111/imr.13413.

Exploring emerging JAK inhibitors in the treatment of Aicardi-Goutières syndrome.

Politano D, Tonduti D, Battini R, et al.

Expert opinion on emerging drugs 2024; 1-19 doi:10.1080/14728214.2024.2445508.

Baricitinib Treatment in RNU7-1-Associated Aicardi-Goutières Syndrome in a South African Child: A Case Report.

Spracklen TF, Akhalwaya S, Ackermann S, et al.

American journal of medical genetics. Part A 2025; (197(5)):e63978 doi:10.1002/ajmg.a.63978.

The c.529G>A (p.Ala177Thr) RNASEH2B Gene Pathogenic Variant as a First-Line Genetic Test for Aicardi-Goutières Syndrome: A Case Series of Four Moroccan Families.

Ouhenach M, Nada A, Lyahyai J, Sefiani A

American journal of medical genetics. Part A 2025; (197(6)):e63997 doi:10.1002/ajmg.a.63997.

Short-term efficacy of tofacitinib, a JAK inhibitor, in IFIH1-related Aicardi-Goutières syndrome.

Hou L, Zhou P, Du Y, et al.

European journal of medical genetics 2025; (75()):105006 doi:10.1016/j.ejmg.2025.105006.

The DNase TREX1 is a substrate of the intramembrane protease SPP with implications for disease pathogenesis.

Tever OK, Mentrup T, Chinn IK, et al.

Cellular and molecular life sciences : CMLS 2025; (82(1)):107 doi:10.1007/s00018-025-05645-5.

Overlapping Aicardi-Goutières and Singleton-Merten syndromes with a heterozygous gain-of-function mutation in IFIH1 mimicking juvenile idiopathic arthritis.

Yamazaki S, Kaneko S, Shimbo A, et al.

Immunological medicine 2025; (48(3)):256-260 doi:10.1080/25785826.2025.2479148.

Delayed Diagnosis of Aicardi-Goutières Syndrome in a 10-Year-Old Female Child With TREX1 Mutation: A Case Report.

Al Zayer L, Al Zayer M, Alrujaib A, et al.

Cureus 2025; (17(2)):e79730 doi:10.7759/cureus.79730.

Tofacitinib treatment for psoriatic skin lesions associated with Aicardi-Goutières syndrome 7/Singleton-Merten syndrome 1.

Beerepoot S, Grinwis L, Vanderver AL, et al.

Orphanet journal of rare diseases 2025; (20(1)):155 doi:10.1186/s13023-025-03675-7.

The Rare Syndrome Aicardi-Goutières 4: A Case Report and Literature Review.

Aydin H, Bolat H

Developmental neurobiology 2025; (85(2)):e22965 doi:10.1002/dneu.22965.

An Evidence-Based Review of Perniosis (Chilblains): Therapeutic Strategies and Integration With Raynaud's Syndrome Management.

Sharifzadeh A, Smith GP

International journal of dermatology 2025; (64(10)):1781-1787 doi:10.1111/ijd.17812.

New Phenotypes Associated With Pathogenic RNASEH2B and SAMHD1 Variants.

Abdel-Salam GMH, Eid M, El-Serafy MA, et al.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience 2025; (85(3)):e70019 doi:10.1002/jdn.70019.

Experiences and Hope in Caregivers of Children With Aicardi Goutières Syndrome.

Gavazzi F, Martin A, Sevagamoorthy A, et al.

Journal of child neurology 2025; (40(7)):543-554 doi:10.1177/08830738251341530.

Talents Amidst Neurological Impairment; an Interesting Case of Aicardi-Goutières Syndrome.

Tabibi P, Shiari R, Sharafian S, Shiari S

Clinical case reports 2025; (13(5)):e70530 doi:10.1002/ccr3.70530.

Moyamoya syndrome in a patient with Aicardi-Goutières syndrome associated with a SAMHD1 mutation: a case report.

Le Floch K, Barillon J, Bonanno MC, et al.

Pediatric radiology 2025; (55(7)):1537-1541 doi:10.1007/s00247-025-06268-5.

One mutation, divergent journeys: expanding the clinical spectrum of homozygous SAMHD1 deficiency in childhood.

Emreol HE, Ünal D, Ayvaz DNC, et al.

Rheumatology (Oxford, England) 2026; (65(1)) doi:10.1093/rheumatology/keaf695.

A novel patient-Centered approach to clinical trial readiness in rare diseases: Application in Aicardi-Goutières Syndrome (AGS).

Sevagamoorthy A, Gavazzi F, Tashnim Z, et al.

Molecular genetics and metabolism 2026; (147(3)):109765 doi:10.1016/j.ymgme.2026.109765.