Multiomic Characterization of Treatment Response to JAK Inhibition in Patients with APECED

This study investigates the effects of JAK1/2 inhibitor ruxolitinib on autoimmune responses in four APECED patients, using multiomic approaches including single-cell RNA sequencing and serum proteome analysis. Ruxolitinib treatment reduced IFNγ-driven inflammation, decreased immune cell accumulation in tissues, and normalized tissue homeostasis, evidenced by hair regrowth. However, potential side effects such as anemia and weight gain were noted. An expanded analysis of 89 additional patients identified a subgroup with severe symptoms and distinct inflammatory profiles, highlighting the complexity of JAK inhibitor effects and the need for careful therapeutic management.