1.
Clin Case Rep
; 10(4): e05791, 2022 Apr.
Article
in English
| MEDLINE | ID: covidwho-1813481
ABSTRACT
STAT 1 GOF mutations are a rare cause of childhood primary immunodeficiency. Recurrent mucocutaneous candidiasis, chest infections, and autoimmune disease are all classic phenotype presentations. Rapid identification and diagnosis of this debilitating disease using whole exon sequencing may improve outcomes and minimize long-term sequelae.