Journal article
Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report
Abstract
BackgroundBiallelic loss-of-function variants in NCF1 lead to reactive oxygen species deficiency and chronic granulomatous disease (CGD). Heterozygosity for the p.Arg90His variant in NCF1 has been associated with susceptibility to systemic lupus erythematosus, rheumatoid arthritis, and Sjögren’s syndrome in adult patients. This study demonstrates the association of the homozygous p.Arg90His variant with interferonopathy with features of …
Authors
Schnappauf O; Heale L; Dissanayake D; Tsai WL; Gadina M; Leto TL; Kastner DL; Malech HL; Kuhns DB; Aksentijevich I
Journal
Pediatric Rheumatology, Vol. 19, No. 1,
Publisher
Springer Nature
Publication Date
December 2021
DOI
10.1186/s12969-021-00536-y
ISSN
1546-0096