| 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 | |
| Synonyms |
B2M deficiency [EXACT] beta-2-microglobulin deficiency [EXACT] hypercatabolic hypoproteinemia [EXACT] IMD43 [EXACT] |
| Parent Relationships |