Term Name: immunodeficiency 43
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 )

Relationships
is a type of: autosomal recessive disease primary immunodeficiency disease