M164 NOVEL ERBIN VARIANT AND ASSOCIATED SEVERE ECZEMA IN A 3-MONTH-OLD

Abstract

ERBIN deficiency has recently been reported as a cause of autosomal dominant hyper-IgE syndrome. Loss-of-function mutations in ERBIN result in dysregulation of TGF-β signaling, which leads to increased Tregs, IL-4Rα expression, and IgE. This case discusses an infant who presented with severe eczema and failure to thrive and was found to have an ERBIN mutation.