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Activated PI3K-delta syndrome
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: Group of disorders
- PASLI
- APDS
- Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
- PI3K delta activating mutations causing senescent T cells, lymphadenopathy and immunodeficiency
- Activated p110-delta syndrome
Prevalence: Unknown
Inheritance: Autosomal dominant
Age of onset: Adult, Childhood, Infancy
: produced/endorsed by ERN(s)
: produced/endorsed by FSMR(s)
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