Ankyloblepharon ectodermal defects with cleft lip/palate syndrome and t-cell lymphopenia resulting from tp-63 mutation

Since the advent of routine newborn screening programs, neonates at risk for severe combined immunodeficiency (SCID) are often identified before onset of severe illness, which has significantly improved prognosis and outcomes. The differential diagnosis for SCID is broad. This case presents a rare instance of a female infant identified by abnormal newborn screen (NBS) with t-cell lymphopenia that is a result of TP63 mutation (OMIM 603273).
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M264 Source Type: research