immunodeficiency 36 with lymphoproliferation https://github.com/monarch-initiative/mondo/issues/9011 https://www.malacards.org/card/immunodeficiency_36 https://www.malacards.org/card/immunodeficiency_36_with_lymphoproliferation MONDO:0014453 immunodeficiency type 36 immunodeficiency 36 GARD:0016046 A primary immunodeficiency disease in which the cause of the disease is a mutation in PIK3R1 gene. It is characterized by infantile or childhood onset of recurrent bacterial respiratory tract infections, lymphoproliferation, variable antibody deficiency (sometimes with hyper IgM), chronic viral infection (EBV, CMV), and autoimmunity. MEDGEN:863371 Orphanet:693681 activated PI3K-delta syndrome-2 APDS2 2025-07-01 IMD36 UMLS:C4014934 OMIM:616005 DOID:0111949 activated PI3K-delta syndrome PIK3R1-related immunodeficiency and SHORT syndrome