immunodeficiency 24

A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p

A severe combined immunodeficiency characterized by impaired proliferation of activated T and B cells in response to antigen receptor-mediated activation that has_material_basis_in homozygous or compound heterozygous mutation in the CTPS1 gene on chromosome 1p34.2.

Signs and symptoms

• Decreased memory B cell proportion
• Decreased antigen-specific T cell proliferation
• Decreased mucosal-associated invariant T cell proportion
• Decreased circulating specific pneumococcal antibody concentration
• Recurrent viral infections
• Decreased circulating IgG2 concentration
• Decreased circulating IgG concentration
• Partial absence of specific antibody response to tetanus vaccine
• Respiratory tract infection
• Severe varicella zoster infection

Also known as: IMD24; SCID due to CTPS1 deficiency; severe combined immunodeficiency due to CTPS1 deficiency