Individuals with Down syndrome (DS) have widespread immune dysregulation, including an increased risk of autoimmune and autoinflammatory skin conditions, like alopecia areata (AA). The triplication of chromosome 21 in DS causes activation of a branch of the immune system called interferon, known to contribute to autoimmunity. One strategy for reducing the negative effects of interferon is a class of drugs called JAK inhibitors. Here, Dr. Rachubinski reports two cases of individuals with DS who were treated for AA with an FDA-approved JAK inhibitor, tofacitinib (Xeljanz, Pfizer), with remarkable success. Therefore, Dr. Rachubinski hypothesizes that JAK inhibition could have therepeutic benefits in DS, including treating AA, and potentially other autoimmune conditions.
Janus kinase inhibition in Down syndrome: 2 cases of therapeutic benefit for alopecia areata. Rachubinski AL, Estrada BE, Norris D, Dunnick CA, Boldrick JC, Espinosa JM. JAAD Case Rep. 2019 Apr 5;5(4):365-367. PMID: 31008170.