Wiley Open Access, Clinical Case Reports, 4(10), 2022
DOI: 10.1002/ccr3.5791
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AbstractSTAT 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.