Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency.
Hanna DmeńskaMałgorzata PacMałgorzata Skomska-PawliszakBarbara PietruchaBeata Wolska-KuśnierzBarbara PiątosaJustyna KomarnickaEdyta Heropolitańska-PliszkaPublished in: Advances in respiratory medicine (2021)
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.