Search Ontology:
Human Disease
immunodeficiency 53
- Term ID
- DOID:0111992
- Synonyms
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- 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
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- MIM:617585
- UMLS_CUI:C4539811
- Ontology
- Human Disease ( DOID:0111992 )
- is a type of
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Genes Involved
Zebrafish Models