Selective JAK1 inhibition remits multiorgan autoimmunity in a patient with refractory autoimmune polyendocrine syndrome type 1

Autoimmune polyendocrine syndrome sort 1 (APS-1), also referred to as autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, is a uncommon autosomal recessive, monogenic autoimmune dysfunction brought on by loss-of-function autoimmune regulator (AIRE) variants.1 With out applicable AIRE expression, tissue-restricted self-antigen presentation and intrathymic elimination of autoreactive T cells fail, leading to tissue-specific autoimmune manifestations early in childhood.1,2 Sufferers with APS-1 face quite a few endocrine and nonendocrine autoimmune manifestations together with the basic triad of persistent mucocutaneous candidiasis (CMC), adrenal insufficiency, and hypoparathyroidism.

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