open access

Vol 88, No 3 (2020)
CASE REPORTS
Published online: 2020-07-18
Submitted: 2019-11-24
Accepted: 2020-03-09
Get Citation

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

Hanna Dmeńska, Małgorzata Pac, Małgorzata Skomska - Pawliszak, Barbara Pietrucha, Beata Wolska - Kuśnierz, Barbara Piątosa, Justyna Komarnicka, Edyta Heropolitańska-Pliszka
DOI: 10.5603/ARM.2020.0112
·
Pubmed: 32706110
·
Adv Respir Med 2020;88(3):271-277.

open access

Vol 88, No 3 (2020)
CASE REPORTS
Published online: 2020-07-18
Submitted: 2019-11-24
Accepted: 2020-03-09

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.

Get Citation

Keywords

primary immunodeficiency; bronchiectasis; STAT1 GOF; CMC

About this article
Title

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

Journal

Advances in Respiratory Medicine

Issue

Vol 88, No 3 (2020)

Pages

271-277

Published online

2020-07-18

DOI

10.5603/ARM.2020.0112

Pubmed

32706110

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

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