Term Name: | immunodeficiency 9 |
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Synonyms: | 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. |
Ontology: | Human Disease [DOID:0111976] ( DOID:0111976 ) |