STAT1 and STAT3 Gain-of-Function

Mit változtat a diagnózis

JAK inhibitors and IL-6 blockade can control disease, and a genetic diagnosis guides the choice of therapy.

Vizsgált gének

Más néven

ADMIO; ADMIO1; autoimmune disease, multisystem, infantile-onset

Mit változtat a diagnózis

JAK inhibitors can control symptoms, and monitoring for aneurysms and infections is advised.

Vizsgált gének

Más néven

CANDF7; candidiasis familial chronic mucocutaneous, autosomal dominant; candidiasis familial, 7; familial chronic mucocutaneous, autosomal dominant; IMD31C; immunodeficiency 31C; immunodeficiency 31C, chronic mucocutaneous candidiasis, autosomal dominant; immunodeficiency type 31C