ZFIN Human Disease: immunodeficiency 10

OBO ID: DOID:0111970

Term Name:	immunodeficiency 10		Search Ontology:
Synonyms:	CID due to STIM1 deficiency combined immunodeficiency due to STIM1 deficiency IMD10 immune dysfunction with T-cell inactivation due to calcium entry defect 2 STIM1 deficiency
Definition:	A T cell and NK cell immunodeficiency characterized by onset in childhood of recurrent infections due to defective T- and NK-cell function that has_material_basis_in homozygous mutation in the STIM1 gene on chromosome 11p15.4. https://pubmed.ncbi.nlm.nih.gov/26560041/
References:	MESH:C557827 OMIM:612783 ORDO:317430 UMLS_CUI:C2748557
Ontology:	Human Disease ( DOID:0111970 )

Relationships

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

OTHER immunodeficiency 10 PAGES

Alliance (1)

GENES INVOLVED

Human Gene	Zebrafish Ortholog	OMIM Term	OMIM Phenotype ID
STIM1	stim1a stim1b	Immunodeficiency 10	612783

ZEBRAFISH MODELS No data available

PHENOTYPE No data available

CITATIONS: None