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Genetic Basis: APDS is caused by gain-of-function mutations in the PIK3CD gene, resulting in hyperactivation of the phosphoinositide 3-kinase delta (PI3Kδ) enzyme
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Immunodeficiency: APDS is primarily characterized by immunodeficiency, particularly affecting B cell function, leading to recurrent sinopulmonary infections, bronchiectasis, and lymphoproliferation
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Clinical Variability: The clinical presentation of APDS can vary widely among affected individuals, with some presenting early in childhood with severe infections while others may have milder symptoms and present later in life
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Lymphoproliferation: Some APDS patients develop lymphoproliferative disorders, such as lymphadenopathy, splenomegaly, and lymphoma, due to dysregulated lymphocyte proliferation
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Autoimmunity: APDS is associated with autoimmune manifestations, including autoimmune cytopenias (such as autoimmune hemolytic anemia and immune thrombocytopenia) and inflammatory bowel disease
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