M163 ASYMPTOMATIC T LYMPHOPENIA IN A YOUNG ADULT WITH PTEN GENE MUTATION

Abstract

PTEN Hamartoma Tumor Syndrome (PHTS) is an autosomal dominant syndrome caused by loss-of-function mutation in the phosphatase and tensin homolog (PTEN) gene. It is characterized by hamartomas, macrocephaly, malignant tumors, and developmental delay. Variable presence of immunodeficiency is an increasingly recognized feature of PTEN mutation.