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Metadata
ID DOID:0111992
Name immunodeficiency 53
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/
Xrefs

OMIM:617585

UMLS_CUI:C4539811

Synonyms

IMD53 [EXACT]

Parent Relationships

is_a combined T cell and B cell immunodeficiency

is_a autosomal recessive disease

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