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.