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immunodeficiency 43
Summary
- Synonym
-
- B2M deficiency
- IMD43
- beta-2-microglobulin deficiency
- hypercatabolic hypoproteinemia
- 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.
- Super Class
- autosomal recessive disease primary immunodeficiency disease
External Links
- Disease Ontology
- DOID:0111981
- Mondo Disease Ontology
- MeSH
- OMIM
