JAK1 gain-of-function variant causes alopecia areata, atopic dermatitis, and autoimmune thyroid disease

Current advances in genomic evaluation have revealed instances of extreme or intractable allergic manifestations attributable to inborn errors of immunity, together with gain-of-function (GOF) or loss-of-function variants within the genes Janus kinase (JAK) and sign transducer and activator of transcription (STAT).1-3 Amongst them, 27 instances with JAK1 GOF have been reported, exhibiting autoimmune and/or inflammatory illnesses, comparable to autoimmune thyroid illnesses (AITD), sarcoidosis, inflammatory bowel illness, and atopic dermatitis (AD).

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