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Volume 88
Issue 3
10.5603/ARM.2020.0112
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Advances in Respiratory Medicine is published by MDPI from Volume 90 Issue 4 (2022). Previous articles were published by another publisher in Open Access under a CC-BY (or CC-BY-NC-ND) licence, and they are hosted by MDPI on mdpi.com as a courtesy and upon agreement with Via Medica.
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Case Report

Progressive Bronchiectasis and CMC in a Patient with STAT1 GOF—A Rare Case of Primary Immunodeficiency

by
Hanna Dmeńska
1,
Małgorzata Pac
2,
Małgorzata Skomska-Pawliszak
2,
Barbara Pietrucha
2,
Beata Wolska-Kuśnierz
2,
Barbara Piątosa
3,
Justyna Komarnicka
4 and
Edyta Heropolitańska-Pliszka
2,*
1
The Pulmonology Outpatients’ Clinic, The Children’s Memorial Health Institute, Warsaw, Poland
2
Department of Immunology, The Children’s Memorial Health Institute, Warsaw, Poland
3
Histocompatibility Laboratory, The Children’s Memorial Health Institute, Warsaw, Poland
4
Department of Radiology and Diagnostic Imaging, The Children’s Memorial Health Institut, Warsaw, Poland
*
Author to whom correspondence should be addressed.
Adv. Respir. Med. 2020, 88(3), 271-277; https://doi.org/10.5603/ARM.2020.0112
Submission received: 24 November 2019 / Revised: 9 March 2020 / Accepted: 9 March 2020 / Published: 18 July 2020

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 primary immunodeficiency; bronchiectasis; STAT1 GOF; CMC

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MDPI and ACS Style

Dmeńska, H.; Pac, M.; Skomska-Pawliszak, M.; Pietrucha, B.; Wolska-Kuśnierz, B.; Piątosa, B.; Komarnicka, J.; Heropolitańska-Pliszka, E. Progressive Bronchiectasis and CMC in a Patient with STAT1 GOF—A Rare Case of Primary Immunodeficiency. Adv. Respir. Med. 2020, 88, 271-277. https://doi.org/10.5603/ARM.2020.0112

AMA Style

Dmeńska H, Pac M, Skomska-Pawliszak M, Pietrucha B, Wolska-Kuśnierz B, Piątosa B, Komarnicka J, Heropolitańska-Pliszka E. Progressive Bronchiectasis and CMC in a Patient with STAT1 GOF—A Rare Case of Primary Immunodeficiency. Advances in Respiratory Medicine. 2020; 88(3):271-277. https://doi.org/10.5603/ARM.2020.0112

Chicago/Turabian Style

Dmeńska, Hanna, Małgorzata Pac, Małgorzata Skomska-Pawliszak, Barbara Pietrucha, Beata Wolska-Kuśnierz, Barbara Piątosa, Justyna Komarnicka, and Edyta Heropolitańska-Pliszka. 2020. "Progressive Bronchiectasis and CMC in a Patient with STAT1 GOF—A Rare Case of Primary Immunodeficiency" Advances in Respiratory Medicine 88, no. 3: 271-277. https://doi.org/10.5603/ARM.2020.0112

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