Immunoprofiling of Darier Disease patients

Darier disease (DD) is a rare, inherited multi-organ disorder associated with mutations in the ATP2A2 gene. In DD patients, the skin is frequently affected, characterized by malodorous, inflamed skin and recurrent, severe infections. Therapeutic options are limited and inadequate for the long-term management of this chronic disease. Using immunoprofiling with NanoString technology we demonstrate enhanced expression of Th-17-related genes and cytokines in five DD patients. We prove that targeting the IL-23/-17 axis in DD with monoclonal antibodies is an effective and safe therapy in DD patients, leading also to significant clinical improvement. We analyzed six samples from DD patients (one (DAR2) had to be excluded due to poor quality), two of them were also analyzed after treatment with monoclonal antibodies. As negative controls two normal skin samples were included, as positive controls two samples from lesional skin of psoriasis patients were included.