Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
TLDR A new TP63 mutation was found in a baby with EEC syndrome, showing the need for TREC testing to check for immune issues.
A novel TP63 mutation was identified in a newborn female with EEC syndrome, presenting with cleft lip, imperforate anus, polydactyly, and abnormal hair growth. Despite normal thymic development, the infant exhibited lymphopenia with low T and B cell counts but normal NK cells and immunoglobulin levels. The TREC count suggested SCID, although the lymphocyte proliferation assay was normal. This case highlighted the importance of including a TREC assay in the workup for EEC to evaluate for potential immunodeficiency.
