{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,9,26]],"date-time":"2025-09-26T22:36:11Z","timestamp":1758926171753},"reference-count":0,"publisher":"MDPI AG","issue":"3","license":[{"start":{"date-parts":[[2020,7,18]],"date-time":"2020-07-18T00:00:00Z","timestamp":1595030400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/creativecommons.org\/licenses\/by\/4.0\/"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Advances in Respiratory Medicine"],"abstract":"<jats:p>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.<\/jats:p>","DOI":"10.5603\/arm.2020.0112","type":"journal-article","created":{"date-parts":[[2020,7,24]],"date-time":"2020-07-24T11:32:49Z","timestamp":1595590369000},"page":"271-277","source":"Crossref","is-referenced-by-count":2,"title":["Progressive Bronchiectasis and CMC in a Patient with STAT1 GOF\u2014A Rare Case of Primary Immunodeficiency"],"prefix":"10.3390","volume":"88","author":[{"given":"Hanna","family":"Dme\u0144ska","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Pac","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ma\u0142gorzata","family":"Skomska-Pawliszak","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Pietrucha","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Beata","family":"Wolska-Ku\u015bnierz","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Barbara","family":"Pi\u0105tosa","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Justyna","family":"Komarnicka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Edyta","family":"Heropolita\u0144ska-Pliszka","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"1968","published-online":{"date-parts":[[2020,7,18]]},"container-title":["Advances in Respiratory Medicine"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2543-6031\/88\/3\/271\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2022,7,8]],"date-time":"2022-07-08T09:33:30Z","timestamp":1657272810000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2543-6031\/88\/3\/271"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2020,7,18]]},"references-count":0,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,7]]}},"alternative-id":["ARM.2020.0112"],"URL":"https:\/\/doi.org\/10.5603\/arm.2020.0112","relation":{},"ISSN":["2543-6031"],"issn-type":[{"value":"2543-6031","type":"electronic"}],"subject":[],"published":{"date-parts":[[2020,7,18]]}}}