Aicardi-Goutières syndrome: A monogenic type I interferonopathy.
Aicardi-Goutières syndrome
causative genes
therapeutic methods
type I interferonopathy
Journal
Scandinavian journal of immunology
ISSN: 1365-3083
Titre abrégé: Scand J Immunol
Pays: England
ID NLM: 0323767
Informations de publication
Date de publication:
Oct 2023
Oct 2023
Historique:
revised:
26
06
2023
received:
09
04
2023
accepted:
16
07
2023
medline:
11
9
2023
pubmed:
29
7
2023
entrez:
29
7
2023
Statut:
ppublish
Résumé
Aicardi-Goutières syndrome (AGS) is a rare monogenic autoimmune disease that primarily affects the brains of children patients. Its main clinical features include encephalatrophy, basal ganglia calcification, leukoencephalopathy, lymphocytosis and increased interferon-α (IFN-α) levels in the patient's cerebrospinal fluid (CSF) and serum. AGS may be caused by mutations in any one of nine genes (TREX1, RNASEH2A, RNASEH2B, RNASEH2C, SAMHD1, ADAR1, IFIH1, LSM11 and RNU7-1) that result in accumulation of self-nucleic acids in the cytoplasm or aberrant sensing of self-nucleic acids. This triggers overproduction of type I interferons (IFNs) and subsequently causes AGS, the prototype of type I interferonopathies. This review describes the discovery history of AGS with various genotypes and provides the latest knowledge of clinical manifestations and causative genes of AGS. The relationship between AGS and type I interferonopathy and potential therapeutic methods for AGS are also discussed in this review.
Substances chimiques
Interferon-alpha
0
Interferon Type I
0
Types de publication
Journal Article
Review
Langues
eng
Sous-ensembles de citation
IM
Pagination
e13314Subventions
Organisme : Inflammation and Immune Mediated Diseases Laboratory of Anhui Province
ID : IMMDL202005
Organisme : Natural Science Foundation of Anhui Province
ID : 1908085MH279
Organisme : Natural Science Foundation of Anhui Province
ID : 1508085MH158
Organisme : College Students' Innovation and Entrepreneurship Training Program-Anhui Province
ID : No.S202310366013
Informations de copyright
© 2023 The Scandinavian Foundation for Immunology.
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