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Metadata
ID DOID:0111981
Name immunodeficiency 43
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.
https://pubmed.ncbi.nlm.nih.gov/16549777/, https://pubmed.ncbi.nlm.nih.gov/25702838/
Xrefs

MESH:C565476

OMIM:241600

Synonyms

B2M deficiency [EXACT]

beta-2-microglobulin deficiency [EXACT]

hypercatabolic hypoproteinemia [EXACT]

IMD43 [EXACT]

Parent Relationships

is_a primary immunodeficiency disease

is_a autosomal recessive disease

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