OBO ID: DOID:0111992
Term Name: immunodeficiency 53 Search Ontology:
Synonyms:
  • IMD53
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 RELB on chromosome 19q13.32. https://pubmed.ncbi.nlm.nih.gov/26385063/
References:
Ontology: Human Disease   (DOID:0111992)
OTHER immunodeficiency 53 PAGES
GENES INVOLVED
Human Gene Zebrafish Ortholog OMIM Term OMIM Phenotype ID
RELB ?Immunodeficiency 53 617585
ZEBRAFISH MODELS No data available
PHENOTYPE No data available

CITATIONS: None