310 Metatranscriptomics detects emerging multidrug-resistant Candida auris in a family with a mild TP63-associated ectodermal dysplasia

Abstract

Tumor protein 63, encoded by TP63, has an essential role in epidermal differentiation and ectodermal development. Autosomal dominant mutations in human TP63 result in several overlapping syndromes, with some established genotype-phenotype correlations based on the protein domain affected. Several groups have linked TP63-associated ectodermal dysplasia (ED) syndromes with varying degrees of immune dysfunction. In this study, we followed the clinical course of a daughter and father who presented with mild ED symptoms, chronic mucocutaneous candidiasis (CMC), recurrent bacterial infections, and equivocal immune function status.