Activated PI3K-delta syndrome

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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 Data version December 2023

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Activated PI3K-delta syndrome?

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Advocacy Organizations

Accessia Health

Accessia Health pioneered the patient assistance model for people living with chronic medical conditions. We provide financial assistance to pay for prescriptions, medical treatments and expenses, travel and insurance premiums. Our program services include healthcare education, specialized legal services, and case management. We’re leveraging our three decades of our entrepreneurial spirit to expand patient assistance support to serve today’s healthcare consumers. Serving diverse populations is our #1 goal and we seek partners who share our belief that all people deserve to have access to healthcare. Over $1.1 billion has been distributed to patients throughout the country, helping them navigate their way through the complexities of the healthcare system. You can help us do even more.

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.