Progressive bronchiectasis and cmc in a patient with stat1 gof — a rare case of primary immunodeficiency

Abstract

Bronchiestasis is a common complication developing in patients with primary immunodeficiency disorders. AD GOF STAT1 deficiency 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.