ZFIN Human Disease: immunodeficiency 43

OBO ID: DOID:0111981

Term Name:	immunodeficiency 43		Search Ontology:
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 OMIM:241600
Ontology:	Human Disease ( DOID:0111981 )

Relationships

is a type of:	autosomal recessive disease primary immunodeficiency disease autosomal recessive disease primary immunodeficiency disease Show first 5 Terms

OTHER immunodeficiency 43 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
B2M	b2m	Immunodeficiency 43	241600

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None