ZFIN Human Disease: immunodeficiency 48

OBO ID: DOID:0111943

Term Name:	immunodeficiency 48		Search Ontology:
Synonyms:	combined immunodeficiency due to ZAP70 deficiency IMD48 zeta-associated-protein 70 deficiency
Definition:	A T cell deficiency characterized by a selective T cell defect where circulating T cells exclusively express CD4, CD3, and T-cell receptor-alpha/beta and not CD8 on their surfaces that has_material_basis_in homozygous or compound heterozygous mutation in the ZAP70 gene on chromosome 2q11.2. https://pubmed.ncbi.nlm.nih.gov/2511270/
References:	GARD:387 MESH:C537590 OMIM:269840 ORDO:911 UMLS_CUI:C1849236
Ontology:	Human Disease ( DOID:0111943 )

Relationships

is a type of:	autosomal recessive disease T cell deficiency autosomal recessive disease T cell deficiency Show first 5 Terms

OTHER immunodeficiency 48 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
ZAP70	zap70	Immunodeficiency 48	269840

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None