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

Tumor protein 63, encoded by TP63, has an essential role in epidermal differentiation and ectodermal development. Autosomal dominant mutations human TP63 result several overlapping syndromes, with some established genotype-phenotype correlations based on the domain affected. Several groups have linked TP63-associated dysplasia (ED) syndromes varying degrees of immune dysfunction. In this study, we followed clinical course a daughter father who presented mild ED symptoms, chronic mucocutaneous candidiasis (CMC), recurrent bacterial infections, equivocal function status. Whole-exome sequencing (WES) whole-transcriptome analysis via RNA (RNA-Seq) disclosed monoallelic mutation TP63. Additionally, RNA-Seq data was used for detection non-albicans Candida species, auris parapsilosis, CMC lesions father, respectively. Although strong association between exists, mechanism dysregulation remains unclear. Our cases attest to variable expressivity disorders potential maintaining system integrity. Furthermore, study represents first case caused multidrug-resistant pathogen C. context demonstrates utility concomitant accurate identification rare often misidentified pathogens.