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Aicardi-Goutieres syndrome: A monogenic type I interferonopathy.
Liu A, Ying S. Liu A, et al. Scand J Immunol. 2023 Oct;98(4):e13314. doi: 10.1111/sji.13314. Epub 2023 Jul 29. Scand J Immunol. 2023. PMID: 37515439 Free article. Review.
Aicardi-Goutieres syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. ...AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and …
Aicardi-Goutieres syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children p …
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing.
Uggenti C, Lepelley A, Depp M, Badrock AP, Rodero MP, El-Daher MT, Rice GI, Dhir S, Wheeler AP, Dhir A, Albawardi W, Frémond ML, Seabra L, Doig J, Blair N, Martin-Niclos MJ, Della Mina E, Rubio-Roldán A, García-Pérez JL, Sproul D, Rehwinkel J, Hertzog J, Boland-Auge A, Olaso R, Deleuze JF, Baruteau J, Brochard K, Buckley J, Cavallera V, Cereda C, De Waele LMH, Dobbie A, Doummar D, Elmslie F, Koch-Hogrebe M, Kumar R, Lamb K, Livingston JH, Majumdar A, Lorenço CM, Orcesi S, Peudenier S, Rostasy K, Salmon CA, Scott C, Tonduti D, Touati G, Valente M, van der Linden H Jr, Van Esch H, Vermelle M, Webb K, Jackson AP, Reijns MAM, Gilbert N, Crow YJ. Uggenti C, et al. Nat Genet. 2020 Dec;52(12):1364-1372. doi: 10.1038/s41588-020-00737-3. Epub 2020 Nov 23. Nat Genet. 2020. PMID: 33230297 Free article.
In genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutieres syndrome, we identified biallelic mutations in LSM11 and RNU7-1, which encode components of the replication-dependent histone pre-mRNA-processing complex. ...
In genetically uncharacterized cases of the type I interferonopathy Aicardi-Goutieres syndrome, we identified biallelic …
Mutations in RNU7-1 Weaken Secondary RNA Structure, Induce MCP-1 and CXCL10 in CSF, and Result in Aicardi-Goutieres Syndrome with Severe End-Organ Involvement.
Naesens L, Nemegeer J, Roelens F, Vallaeys L, Meuwissen M, Janssens K, Verloo P, Ogunjimi B, Hemelsoet D; Program for Undiagnosed Rare Diseases (UD-PrOZA); Hoste L, Roels L, De Bruyne M, De Baere E, Van Dorpe J, Dendooven A, Sieben A, Rice GI, Kerre T, Beyaert R, Uggenti C, Crow YJ, Tavernier SJ, Maelfait J, Haerynck F. Naesens L, et al. J Clin Immunol. 2022 Jul;42(5):962-974. doi: 10.1007/s10875-022-01209-5. Epub 2022 Mar 23. J Clin Immunol. 2022. PMID: 35320431 Free PMC article.
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurologic regression. ...Clinical follow-up of RNU7-1-mutated patients should include screening for severe end-organ involvement incl …
BACKGROUND: Aicardi-Goutieres syndrome (AGS) is a type I interferonopathy usually characterized by early-onset neurolog …
SAMHD1 compound heterozygous rare variants associated with moyamoya and mitral valve disease in the absence of other features of Aicardi-Goutieres syndrome.
Karla AR, Pinard A, Boerio ML, Hemelsoet D, Tavernier SJ, De Pauw M, Vereecke E, Fraser S, Bamshad MJ, Guo D, Callewaert B, Milewicz DM. Karla AR, et al. Am J Med Genet A. 2024 Apr;194(4):e63486. doi: 10.1002/ajmg.a.63486. Epub 2023 Dec 1. Am J Med Genet A. 2024. PMID: 38041217
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encephalopathy with both neurologic and extraneurologic clinical findings. AGS has been associated with pathogenic variants in nine genes: TREX1, …
Aicardi-Goutieres syndrome (AGS) is an autosomal recessive inflammatory syndrome that manifests as an early-onset encep …
Systemic complications of Aicardi Goutieres syndrome using real-world data.
Peixoto de Barcelos I, Jan AK, Modesti N, Woidill S, Gavazzi F, Isaacs D, D'Aiello R, Sevagamoorthy A, Charlton L, Pizzino A, Schmidt J, van Haren K, Keller S, Eichler F, Emrick LT, Fraser JL, Shults J, Vanderver A, Adang LA. Peixoto de Barcelos I, et al. Mol Genet Metab. 2024 Sep-Oct;143(1-2):108578. doi: 10.1016/j.ymgme.2024.108578. Epub 2024 Sep 15. Mol Genet Metab. 2024. PMID: 39332260
OBJECTIVE: Aicardi Goutieres Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic complications. ...RESULTS: The genotype frequency in the natural history cohort was TREX1 (n = 26, 15.6 %), RNASEH2B (n = 50, 29.9 %), RNASEH2 …
OBJECTIVE: Aicardi Goutieres Syndrome (AGS) is a rare genetic interferonopathy associated with diverse multisystemic co …
Aicardi-Goutieres Syndrome due to a SAMHD1 Mutation Presenting with Deep White Matter Cysts.
Oleksy B, Mierzewska H, Tryfon J, Wypchło M, Wasilewska K, Zalewska-Miszkurka Z, Płoski R, Rydzanicz M, Szczepanik E. Oleksy B, et al. Mol Syndromol. 2022 Feb;13(2):132-138. doi: 10.1159/000518941. Epub 2021 Nov 18. Mol Syndromol. 2022. PMID: 35418820 Free PMC article.
We report on the first Polish patient diagnosed with the Aicardi-Goutieres syndrome 5 (AGS5). AGS is caused by mutations in one of 9 genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR, IFIH, LSM11, RNU7-1) which stimulate the type I interf …
We report on the first Polish patient diagnosed with the Aicardi-Goutieres syndrome 5 (AGS5). AGS is caused by mutation …