FB2025_05 , released December 11, 2025
FB2025_05 , released December 11, 2025
CV Term Report
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General Information
Term immunodeficiency 53 ID (Ontology) DOID:0111992 (Human Disease)
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.
Also Known As "IMD53"
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 Genes
 immunodeficiency 53       1
 for disease ribbon | immunodeficiency 53       1
 model of | immunodeficiency 53       1
Spanning Tree (Parents/Children)
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autosomal genetic disease
 |__autosomal recessive disease__________________
combined immunodeficiency                        |
 |__combined T cell and B cell immunodeficiency__|
                                                 immunodeficiency 53  1 rec.
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Is a autosomal recessive disease
combined T cell and B cell immunodeficiency
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Synonyms
  • "IMD53" EXACT OMO:0003012
Secondary IDs
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MIM:617585
UMLS_CUI:C4539811