label: Immunodeficiency 14A, Autosomal Dominant
label_lc: immunodeficiency 14a, autosomal dominant
description: "An autosomal dominant condition caused by mutation(s) caused by mutation(s) in the PIK3CD gene, encoding phosphatidylinositol 4,5-bisphosphate 3-kinase catalytic subunit delta isoform. It is characterized by defects in T-cells and B-cells and recurrent sinopulmonary infections in childhood."