Variant <i>STAT4</i> and Response to Ruxolitinib in an Autoinflammatory Syndrome

Abstract

Gain-of-function variants in <i>STAT4</i> caused DPM in the families that we studied. The JAK inhibitor ruxolitinib attenuated the dermatologic and inflammatory phenotype in vitro and in the affected family members. (Funded by the American Academy of Allergy, Asthma, and Immunology Foundation and others.).