open access
Progressive bronchiectasis and CMC in a patient with STAT1 GOF — a rare case of primary immunodeficiency
open access
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.
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
primary immunodeficiency; bronchiectasis; STAT1 GOF; CMC
About this articleTitle
Progressive bronchiectasis and CMC in a patient with STAT1 GOF — a rare case of primary immunodeficiency
Journal
Advances in Respiratory Medicine
Issue
Article type
Case report
Pages
271-277
Published online
2020-07-18
DOI
10.5603/ARM.2020.0112
Pubmed
Bibliographic record
Adv Respir Med 2020;88(3):271-277.
Keywords
primary immunodeficiency
bronchiectasis
STAT1 GOF
CMC
Authors
Hanna Dmeńska
Małgorzata Pac
Małgorzata Skomska - Pawliszak
Barbara Pietrucha
Beata Wolska - Kuśnierz
Barbara Piątosa
Justyna Komarnicka
Edyta Heropolitańska-Pliszka