| Metadata | |
|---|---|
| ID | DOID:0111976 |
| Name | immunodeficiency 9 |
| 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. https://pubmed.ncbi.nlm.nih.gov/16582901/, https://pubmed.ncbi.nlm.nih.gov/20004786/ |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
CID due to ORAI1 deficiency [EXACT] combined immunodeficiency due to ORAI1 deficiency [EXACT] IMD9 [EXACT] immune dysfunction with T-cell inactivation due to calcium entry defect 1 [EXACT] |
| Parent Relationships |
is_a T cell deficiency |