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

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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.

Case Report

18 July 2020

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

and

The Pulmonology Outpatients’ Clinic, The Children’s Memorial Health Institute, Warsaw, Poland

Department of Immunology, The Children’s Memorial Health Institute, Warsaw, Poland

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

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

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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

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