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C220695Level 8

Activated Phosphatidylinositol-3-OH Kinase Delta Syndrome, Type 2

**Semantic type:** Disease or Syndrome

**Definition:** Activated phosphatidylinositol-3-OH kinase delta syndrome caused by activating mutations in PIK3R1 gene.

**Synonyms:** - APDS2 - Activated PI3K Delta Syndrome 2 - Activated PI3K-Delta Syndrome 2 - Immunodeficiency 36 - PIK3R1-Associated Immunodeficiency

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