Search Ontology:
Human Disease

immunodeficiency 9

Term ID
DOID:0111976
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. (2)
References
Ontology
Human Disease   ( DOID:0111976 )
Relationships
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Genes Involved
Zebrafish Models