Article
Systematic review of mortality and survival rates for APDS.
Clinical and experimental medicine - 27 Jan 2024
Hanson Jennifer, Bonnen Penelope E
Abstract excerpt
Activated phosphoinositide 3-kinase delta syndrome (APDS) is a rare genetic disorder that presents clinically as a primary immunodeficiency. Clinical presentation of APDS includes severe, recurrent infections, lymphoproliferation, lymphoma, and other cancers, autoimmunity and enteropathy. Autosomal dominant variants in two independent genes have been demonstrated to cause APDS. Pathogenic variants in PIK3CD and...
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