Casanova, Jean Laurent PHD
The Rockefeller University
The six known genetic etiologies of isolated (AD IL-17F and AR IL-17RA, IL-17RC, and ACT1 deficiencies) and syndromic CMCD (AR ROR-γ deficiency and AD STAT1 GOF) impair IL-17A/F immunity. We hypothesize that CMCD in other patients may result from these or other monogenic inborn errors of IL-17A/F immunity. We aim to pursue the molecular, cellular, immunological, and clinical description of known and novel inborn errors of IL-17A/F immunity, by following GW approaches, based on GWL and WES/WGS.