immunodeficiency 56

A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that

A combined T cell and B cell immunodeficiency characterized by B- and T-cell defects including defective class-switched B cells, low IgG, defective antibody response, and defective T-cell responses to certain antigens, and variable dysfunction of NK cells that has_material_basis_in homozygous or compound heterozygous mutation in the IL21R gene on chromosome 16p12.1.

Signs and symptoms

• Recurrent infection of the gastrointestinal tract
• Recurrent infections
• Chronic hepatitis due to cryptosporidium infection
• Recurrent otitis media
• Cholangitis
• Recurrent pneumonia
• Pneumocystis jirovecii pneumonia
• Recurrent respiratory infections
• Panhypogammaglobulinemia
• Chronic diarrhea

Also known as: IL21R immunodeficiency; IMD56; combined immunodeficiency due to IL21R deficiency