ZFIN Human Disease: immunodeficiency 53

OBO ID: DOID:0111992

Term Name:	immunodeficiency 53		Search Ontology:
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:	OMIM:617585 UMLS_CUI:C4539811
Ontology:	Human Disease ( DOID:0111992 )

Relationships

is a type of:	autosomal recessive disease combined T cell and B cell immunodeficiency autosomal recessive disease combined T cell and B cell immunodeficiency Show first 5 Terms

OTHER immunodeficiency 53 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RELB	relb	?Immunodeficiency 53	617585

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None