Activated Phosphatidylinositol-3-OH Kinase Delta Syndrome, Type 1

**Semantic type:** Disease or Syndrome

**Definition:** Activated phosphatidylinositol-3-OH kinase delta syndrome caused by activating mutations in PIK3CD gene.

**Synonyms:** - APDS1 - Activated PI3K-Delta Syndrome 1 - IMD14A - Immunodeficiency 14 - Immunodeficiency 14A, Autosomal Dominant