Rare Hematology News

5 Facts you should know about

Activated PI3K delta syndrome (APDS)



APDS, a primary immunodeficiency, was only characterized in 2013, although it shares many features of other immune disorders, which means APDS patients may have been previously misdiagnosed with other conditions


Signs and symptoms of APDS start in childhood, and patients are vulnerable to repeat infections and immune dysregulation such as lymphadenopathy, splenomegaly, autoimmune cytopenias, and even lymphoma


Initially, patients with APDS may seek care from hematologists because of swollen lymph nodes or low numbers of blood cells

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Overproduction of B and T cells has been shown to appear as swollen tonsils, lymphadenopathy, or a swollen spleen


Genetic testing is the only way to definitively diagnose APDS and other primary immunodeficiencies that could lead to potentially fatal disorders like lymphoma

Rare Hematology News