Human genes for immunodeficiency 43
Immunodeficiency 43 [DOID:0111981]
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.
Synonyms: immunodeficiency 43, DOID:0111981, B2M deficiency, beta-2-microglobulin deficiency, hypercatabolic hypoproteinemia ...