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Activated PI3K delta syndrome (APDS)
A rare, genetic, primary immunodeficiency disease characterized by recurrent bacterial and viral infections, lymphoproliferation, and/or autoimmune disease
Prevalence
Age of Onset
ICD-10
D81.8
Inheritance
Autosomal dominant
Autosomal recessive
Mitochondrial/Multigenic
X-linked dominant
X-linked recessive
5 Facts you should know
FACT
APDS, a primary immunodeficiency, was only characterized in 2013; however, it shares many features of other immune disorders, which means APDS patients may have been previously misdiagnosed with other conditions.
FACT
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.
FACT
Initially, patients with APDS may seek care from hematologists because of swollen lymph nodes or low numbers of blood cells.
FACT
Overproduction of B and T cells has been shown to appear as swollen tonsils, lymphadenopathy, or a swollen spleen.
FACT
Genetic testing is the only way to definitively diagnose APDS and other primary immunodeficiencies that could lead to potentially fatal disorders like lymphoma.
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Common signs & symptoms
Bronchiectasis
Permanent enlargement of the airways of the lungs