Activated PI3K-delta syndrome
Synonyms: APDS | Senescent T-cells-lymphadenopathy-immunodeficiency syndrome due to p110delta-activating mutation
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.
Data from Orphanet are used to provide information on a disease's name, synonym(s), and overview.
Reference: Access aggregated data from Orphanet at Orphadata.
Orphadata: Free access data from Orphanet. © INSERM 1999. Available on http://www.orphadata.org. Data version March 2024
Newly diagnosed with
Activated PI3K-delta syndrome?
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Advocacy Organizations
Ukrainian Association of Pediatric Immunology
Development of pediatric and clinical immunology in Ukraine. Raising awareness of inborn errors of immunity in Ukraine and rare immune diseases; Advocacy campaigns supporting patients with rare immune diseases and their treatment plans; Scientific research; Sharing knowledge about immunoprophylaxis; Advocacy campaigns supporting immunoprophylaxis.
Clinical Trials
For a list of clinical trials in this disease area, please click here.