Progressive bronchiectasis and CMC in a patient with STAT1 GOF - a rare case of primary immunodeficiency.
CMC
STAT1 GOF
bronchiectasis
primary immunodeficiency
Journal
Advances in respiratory medicine
ISSN: 2543-6031
Titre abrégé: Adv Respir Med
Pays: Switzerland
ID NLM: 101697329
Informations de publication
Date de publication:
2020
2020
Historique:
received:
24
11
2019
accepted:
09
03
2020
entrez:
25
7
2020
pubmed:
25
7
2020
medline:
29
6
2021
Statut:
ppublish
Résumé
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.
Identifiants
pubmed: 32706110
pii: VM/OJS/J/66563
doi: 10.5603/ARM.2020.0112
doi:
Substances chimiques
STAT1 Transcription Factor
0
STAT1 protein, human
0
Types de publication
Case Reports
Journal Article
Langues
eng
Sous-ensembles de citation
IM