A child with bronchiectasis, chronic mucocutaneous candidiasis, and hypothyroidism secondary to STAT1 gain‐of‐function mutation: A case report and review of the literature

Abstract

STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long‐term sequelae.STAT 1 gain‐of‐function mutation is a rare cause of immunodeficiency in children. A high index of clinical suspicion is crucial for early diagnosis and to minimize long‐term complications.