Clinical Case Reports (Apr 2022)

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

  • Dhuha Alidrisi,
  • Lama Maksood,
  • Wed Alqahtani,
  • Faisal Minshawi,
  • Abdullah Aburziza,
  • Waleed F. Janem,
  • Mohammed A. Almatrafi

DOI
https://doi.org/10.1002/ccr3.5791
Journal volume & issue
Vol. 10, no. 4
pp. n/a – n/a

Abstract

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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.

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