common variable immunodeficiency 5

A common variable immunodeficiency that has_material_basis_in homozygous mutation in the CD20 gene (MS4A1) on chromosome 11q13.

Signs and symptoms

• Combined immunodeficiency
• Antinuclear antibody positivity
• Chronic decreased circulating total IgG concentration
• Recurrent respiratory infections
• Recurrent bacterial infections
• Abnormal total T cell number
• Abnormal total B cell count