immunodeficiency 43

Term ID

DOID:0111981

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. (2)

References

• MESH:C565476
• MIM:241600

Ontology

Human Disease   ( DOID:0111981 )