ZFIN Human Disease: immunodeficiency 64

OBO ID: DOID:0111980

Term Name:	immunodeficiency 64		Search Ontology:
Synonyms:	IMD64
Definition:	A T cell, B cell, and NK cell deficiency characterized by variably decreased numbers of T cells, lesser deficiencies of B and NK cells, decreased phosphorylation of the extracellular-signal-regulated serine kinase ERK in T and B cells, and onset in early childhood of recurrent bacterial, viral, and fungal infections that has_material_basis_in homozygous or compound heterozygous mutation in the RASGRP1 gene on chromosome 15q14. (3)
References:	OMIM:618534
Ontology:	Human Disease ( DOID:0111980 )

Relationships

is a type of:	autosomal recessive disease T cell, B cell, and NK cell deficiency autosomal recessive disease T cell, B cell, and NK cell deficiency Show first 5 Terms

OTHER immunodeficiency 64 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
RASGRP1		Immunodeficiency 64

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None