immunodeficiency 43

A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has

A primary immunodeficiency disease characterized by recurrent infections, reduced serum concentrations of immunoglobulin G and albumin due to rapid degradation of these proteins, abnormal renal or liver function, and excessive gastrointestinal protein that has_material_basis_in homozygous or compound heterozygous mutation in B2M on chromosome 15q21.1.

Signs and symptoms

• Decreased specific antibody response to unconjugated polysaccharide vaccine
• Bronchiectasis
• Hypoproteinemia
• Hypoalbuminemia
• Decreased circulating beta-2-microglobulin concentration
• Decreased circulating IgG concentration
• Lung abscess
• Hypoplasia of the ulna
• Subcutaneous nodule
• Decreased total B cell count

Also known as: B2M deficiency; IMD43; beta-2-microglobulin deficiency; hypercatabolic hypoproteinemia