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immunodeficiency 9
Summary
- Synonym
-
- CID due to ORAI1 deficiency
- IMD9
- combined immunodeficiency due to ORAI1 deficiency
- 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.
- Super Class
- T cell deficiency autosomal recessive disease
External Links
- Disease Ontology
- DOID:0111976
- Mondo Disease Ontology
- MeSH
- UMLS
- ORDO
- OMIM
Related Genes
