immunodeficiency 11A

A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_b

A severe combined immunodeficiency characterized by defective intracellular signaling in T and B cells, increased numbers of transitional B cells, hypogammaglobulinemia, decreased numbers of regulatory T cells and defects in T-cell function that has_material_basis_in homozygous or compound heterozygous mutation in the CARD11 gene on chromosome 7p22.2.

Signs and symptoms

• Decreased circulating immunoglobulin concentration
• Agammaglobulinemia
• Pneumocystis jirovecii pneumonia
• Decreased regulatory T cell proportion
• Recurrent respiratory infections
• Decreased total monocyte count
• Decreased antigen-specific T cell proliferation
• Immunodeficiency

Also known as: CARD11 deficiency; IMD11A; SCID due to CARD11 deficiency; severe combined immunodeficiency due to CARD11 deficiency