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Activated PI3K-delta syndrome

Disease definition

A rare, genetic, primary immunodeficiency disease characterized by increased susceptibility to recurrent and/or severe bacterial and viral infections (in particular, sinopulmonary bacterial and herpesvirus infections), chronic benign lymphoproliferation (manifesting as lymphadenopathy, hepatosplenomegaly and focal nodular lymphoid hyperplasia), and/or autoimmune disease (including immune cytopenias, juvenile arthritis, glomerulonephritis and sclerosing cholangitis). Immunophenotypically, variable degrees of agammaglobulinemia with increased IgM levels, increased circulating transitional B cells, decreased naïve CD4 and CD8 T-cells with increased CD8 effector/memory T cells are observed.

ORPHA:397596

Classification level: Disorder
  • Synonym(s):
    • APDS
    • Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal dominant 
  • Age of onset: Infancy, Childhood, Adult
  • ICD-10: D81.8
  • OMIM: 615513  616005
  • UMLS: C3714976
  • MeSH: -
  • GARD: 11983
  • MedDRA: -

Detailed information

Article for general public

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