immunodeficiency 36

A combined T cell and B cell immunodeficiency 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), a

A combined T cell and B cell immunodeficiency 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 that has_material_basis_in heterozygous mutation in the PIK3R1 gene on chromosome 5q13.

Signs and symptoms

• Decreased naive CD4+ T cell proportion
• Decreased naive CD8+ T cell proportion
• Recurrent bacterial infections
• Decreased circulating IgG concentration
• Decreased total B cell count
• Recurrent upper respiratory tract infections
• Decreased circulating IgA concentration
• Recurrent lower respiratory tract infections
• Increased circulating IgM concentration
• Increased transitional B cell proportion

Also known as: IMD36; activated phosphoinositide 3-kinase delta syndrome 2; immunodeficiency-36 with lymphoproliferation