Article

Real-world evidence of mortality and survival rates in 256 individuals with APDS

2022-12-06

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 PIK...

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Literature Corpus work: d7ed3b83-e7c6-5961-8919-86f2398fe2a7
DOI: 10.1101/2022.12.05.22283110

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