Immunodeficiency 36 with lymphoproliferation

MONDO:0014453

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.

Also known as: APDS2, IMD36, activated PI3K-delta syndrome-2, immunodeficiency 36, immunodeficiency type 36

41 clinical trials for this condition and its sub-types, 0 tagged with Immunodeficiency 36 with lymphoproliferation itself.

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↑ Activated PI3K-delta syndrome (6) ↑ PIK3R1-related immunodeficiency and SHORT syndrome (0)

Including sub-types (41) Tagged with Immunodeficiency 36 with lymphoproliferation (0)

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