immunodeficiency 53

Summary

DOID:0111992 - immunodeficiency 53

Disease Ontology Definition:A combined T cell and B cell immunodeficiency characterized by recurrent upper and lower respiratory infections, increase in the CD4+ T cell to CD8+ T cell ratio, impaired T-cell proliferative responses to multiple antigens, and impaired ability to produce specific immunoglobulins that has_material_basis_in homozygous or compound heterozygous mutation in the RELB gene on chromosome 19q13.32.

Synonyms: IMD53

Xenbase Genes Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

Genes associated with this Disease Ontology entry or its descendents or its corresponding OMIM entries

: relb

MIM:

MIM:617585 - IMMUNODEFICIENCY 53; IMD53

MIM:617585 - IMMUNODEFICIENCY 53; IMD53

Other Model Organisms: Alliance, MGI, ZFIN, FlyBase, WormBase, RGD

Ontology Viewers: Disease Ontology, EMBL-EBI, OLSVis tree view, Ontobee

Parent(s): autosomal recessive disease (is_a), combined T cell and B cell immunodeficiency (is_a)