Search Ontology:
Human Disease

immunodeficiency 53

Term ID
DOID:0111992
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 the RELB gene on chromosome 19q13.32. https://pubmed.ncbi.nlm.nih.gov/26385063/
References
Ontology
Human Disease   ( DOID:0111992 )
Relationships
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Genes Involved
Zebrafish Models