Abstract
Individuals with Down syndrome (DS, trisomy 21) display consistent activation of the interferon (IFN) response, hyperactive JAK/STAT signaling, and chronic dysregulation of the immune system, which could be explained by the fact that four IFN receptors are encoded on chromosome 21. IFN hyperactivity may explain the high prevalence of immune skin conditions in this population, including alopecia areata (AA), hidradenitis suppurativa (HS), psoriasis, atopic dermatitis, and vitiligo. We investigated the use of the JAK inhibitor Tofacitinib in an open label clinical trial enrolling individuals with DS ages 12-50 with moderate-to-severe AA, HS, psoriasis, atopic dermatitis, and/or vitiligo.
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