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Published on: March 17, 2014
Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency
Hanna Dmeńska1, Małgorzata Pac2, Małgorzata Skomska-Pawliszak2
1The Pulmonology Outpatients' Clinic, The Children's Memorial Health Institute, Warsaw, Poland.
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.
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