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Up to: Activated PI3K-delta syndrome · PIK3R1-related immunodeficiency and SHORT syndrome
Immunodeficiency 36 with lymphoproliferation
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.
This condition has no sub-types.