ZFIN Human Disease: immunodeficiency 52

OBO ID: DOID:0111983

Term Name:	immunodeficiency 52		Search Ontology:
Synonyms:	IMD52 severe combined immunodeficiency due to LAT deficiency
Definition:	A T cell deficiency characterized by onset of severe recurrent infections in infancy and a defect in T-cell receptor signaling resulting in variable immunological disorders that has_material_basis_in homozygous or compound heterozygous mutation in LAT on chromosome 16p11.2. (2)
References:	OMIM:617514 ORDO:504523 SNOMEDCT_US_2023_03_01:1179284005 UMLS_CUI:C4479588
Ontology:	Human Disease ( DOID:0111983 )

Relationships

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

OTHER immunodeficiency 52 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
LAT	lat	Immunodeficiency 52	617514

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None