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Papers of the Week


2021 Apr 23


Pediatr Rheumatol Online J


19


1

Homozygous variant p. Arg90His in NCF1 is associated with early-onset Interferonopathy: a case report.

Authors

Schnappauf O, Heale L, Dissanayake D, Tsai WL, Gadina M, Leto TL, Kastner DL, Malech HL, Kuhns DB, Aksentijevich I, Laxer RM
Pediatr Rheumatol Online J. 2021 Apr 23; 19(1):54.
PMID: 33892719.

Abstract

Biallelic 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 autoinflammation and autoimmunity in a pediatric patient.