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Immunoprofiling of Darier Disease patients

ABSTRACT: Immunoprofiling of Darier Disease patients

PROVIDER: PRJNA917428 | ENA |

REPOSITORIES: ENA

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Immunoprofiling of Darier Disease patients

Project description: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.

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Targeting of Th17-related cytokines in patients with Darier Disease

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