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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 the RELB gene 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