immunodeficiency 18

A primary immunodeficiency disease characterized by onset in infancy or early childhood of recurrent infections with variable severity that has_material_basis_in homozygous or compound heterozygous mutation in the CD3E gene on chromosome 11q23.3.

Signs and symptoms

• Decreased total T cell count
• Chronic decreased circulating IgA concentration
• Abnormal T cell proliferation
• Decreased total CD4+ T cell proportion
• Abnormal lymphocyte count
• Decreased total lymphocyte count
• Recurrent otitis media
• Recurrent pneumonia
• Immunodeficiency
• Decreased circulating IgM concentration

Also known as: CD3-epsilon deficiency; IMD18