Version: 8.0.0
Date: Tue Jan 28 2025
immunodeficiency 9
DOID:0111976
SummaryAssociated GenesAssociated AllelesAssociated Models
Disease

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.
Synonyms
  • CID due to ORAI1 deficiency
  • combined immunodeficiency due to ORAI1 deficiency
Cross References
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