Term Name: | immunodeficiency 43 |
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Synonyms: | B2M deficiency, beta-2-microglobulin deficiency, hypercatabolic hypoproteinemia, IMD43 |
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. |
Ontology: | Human Disease [DOID:0111981] ( DOID:0111981 ) |