Ectrodactyly, Ectodermal Dysplasia, and Cleft Lip/Palate Syndrome with Concomitant Lymphopenia: A Novel TP63 Mutation
Studysummary This study reports a novel mutation in the TP63 gene associated with T and B cell lymphopenia in an EEC patient, suggesting that EEC diagnosis should include TREC assay and evaluation for immunodeficiency.
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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.
