Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency

Adv Respir Med. 2020;88(3):271-277. doi: 10.5603/ARM.2020.0112.

Abstract

Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 defi-ciency is characterized by CMC, repeated infections, and autoimmunity. It is the most frequently diagnosed entity in a group of PIDs with CMC. Here, we present the first Polish case of a female patient with early-onset bronchiestasis accompanied by CMC and a severe course of infections who was genetically diagnosed with AD GOF1 STAT1 mutation at the age of 15.

Keywords: CMC; STAT1 GOF; bronchiectasis; primary immunodeficiency.

Publication types

  • Case Reports

MeSH terms

  • Adolescent
  • B-Lymphocytes / immunology
  • B-Lymphocytes / metabolism*
  • Bronchiectasis / diagnostic imaging
  • Bronchiectasis / genetics*
  • Bronchiectasis / metabolism*
  • Candidiasis, Chronic Mucocutaneous / diagnostic imaging
  • Candidiasis, Chronic Mucocutaneous / genetics
  • Candidiasis, Chronic Mucocutaneous / metabolism*
  • Female
  • Humans
  • STAT1 Transcription Factor / metabolism*
  • Tomography, X-Ray Computed

Substances

  • STAT1 Transcription Factor
  • STAT1 protein, human