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.
MONDO:0018338
activated PI3K-delta syndrome
is_a
MONDO:1060136
PIK3R1-related immunodeficiency and SHORT syndrome
is_a
APDS2
exact
IMD36
exact
activated PI3K-delta syndrome-2
exact
immunodeficiency 36
exact
immunodeficiency type 36
exact