immunodeficiency 43 (DOID:0111981)
Alliance: disease page
Synonyms: B2M deficiency; beta-2-microglobulin deficiency; hypercatabolic hypoproteinemia; IMD43
Alt IDs: OMIM:241600, MESH:C565476
Definition: 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.