Search Ontology:
Human Disease
immunodeficiency 9
- Term ID
- DOID:0111976
- Synonyms
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- CID due to ORAI1 deficiency
- combined immunodeficiency due to ORAI1 deficiency
- IMD9
- immune dysfunction with T-cell inactivation due to calcium entry defect 1
- Definition
- A T cell deficiency characterized by early onset of recurrent infections due to defective T-cell activation, ectodermal dysplasia, and congenital myopathy that has_material_basis_in homozygous or compound heterozygous mutation in the ORAI1 gene, which encodes a subunit of the plasma membrane calcium channel CRAC, on chromosome 12q24.31. (2)
- References
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- MESH:C557826
- MIM:612782
- ORDO:317428
- UMLS_CUI:C2748568
- Ontology
- Human Disease ( DOID:0111976 )
- is a type of
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Genes Involved
Zebrafish Models