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Activated PI3K-delta syndrome

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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: Unknown

Inheritance: Autosomal dominant

Age of onset: Adult, Childhood, Infancy

ICD-10: D81.8

OMIM: 615513 616005

UMLS: C3714976

MeSH: C585640

GARD: 11983

A summary on this disease is available in Français (2018) Español (2018) Italiano (2018) Nederlands (2018)
Detailed information
General public
Article for general public
Deutsch (2017.pdf) - Centrum für Chronische Immundefizienz
Guidelines
Clinical practice guidelines

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