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Efficacy of Baricitinib in the Treatment of Chilblains Associated With Aicardi‐Goutières Syndrome, a Type I Interferonopathy
Author(s) -
Meesilpavikkai Kornvalee,
Dik Willem A.,
Schrijver Benjamin,
HeldenMeeuwsen Cornelia G.,
Versnel Marjan A.,
Hagen P. Martin,
Bijlsma Emilia K.,
Ruivenkamp Claudia A. L.,
Oele Margreet J.,
Dalm Virgil A. S. H.
Publication year - 2019
Publication title -
arthritis and rheumatology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 4.106
H-Index - 314
eISSN - 2326-5205
pISSN - 2326-5191
DOI - 10.1002/art.40805
Subject(s) - medicine , immunology , autoimmunity , nonsense mutation , mutation , immune system , missense mutation , gene , biology , genetics
Aicardi-Goutières syndrome (AGS) is a rare early-onset auto-inflammatory disease characterized by basal ganglia calcification, chronic cerebrospinal fluid (CSF) lymphocytosis, and elevated type I interferon (IFN) levels in the CSF (1, 2). Typical clinical manifestations include developmental delay, intellectual impairment, chilblain, panniculitis, glaucoma, and autoimmunity overlapping with systemic lupus erythematosus (SLE) This article is protected by copyright. All rights reserved.