FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 43 ID (Ontology) DOID:0111981 (Human Disease)
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.
Also Known As "B2M deficiency" ; "beta-2-microglobulin deficiency" ; "hypercatabolic hypoproteinemia" (for all, see Synonyms field below)
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autosomal genetic disease
 |__autosomal recessive disease_______
immune system disease                 |
 |__primary immunodeficiency disease__|
                                      immunodeficiency 43
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Is a autosomal recessive disease
primary immunodeficiency disease
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Synonyms
  • "B2M deficiency" EXACT
    "beta-2-microglobulin deficiency" EXACT
    "hypercatabolic hypoproteinemia" EXACT
    "IMD43" EXACT OMO:0003012
Secondary IDs
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MESH:C565476
MIM:241600