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

ABSTRACT:

Background

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.

Case presentation

A 5-year old female of Indian ancestry with early-onset recurrent fever and headache, and persistently elevated antinuclear, anti-Ro, and anti-La antibodies was found to carry the homozygous p.Arg90His variant in NCF1 through exome sequencing. Her unaffected parents

SUBMITTER: Schnappauf O 

PROVIDER: S-EPMC8063424 | biostudies-literature | 2021 Apr

REPOSITORIES: biostudies-literature