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Condition report · Immunological

Activated PI3K-Delta Syndrome (APDS)

APDS is caused by overactivity of the PI3K-delta signalling enzyme in immune cells, due to changes in PIK3CD (APDS1) or PIK3R1 (APDS2). It causes recurrent chest and sinus infections, persistent viral infections, enlarged lymph nodes and spleen, and a raised lymphoma risk.

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The condition we analyse

Activated PI3K-delta syndrome

Autosomal dominant

Immunodeficiency with lymphoproliferation caused by a single activating change in PIK3CD or PIK3R1.

What a diagnosis changes

A genetic diagnosis allows targeted treatment with leniolisib, a PI3K-delta inhibitor, alongside immunoglobulin replacement and lymphoma monitoring.

Genes analysed

Also known as

APDS; senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation

Includes 2 related subtypes ↓
  • immunodeficiency 14
  • immunodeficiency 36 with lymphoproliferation
MONDO:0018338Orphanet 397596

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