Orphanet: Déficit immunitaire combiné par dysfonctionnement du canal CRAC
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Combined immunodeficiency due to CRAC channel dysfunction

Disease definition

Combined immunodeficiency (CID) due to Ca2+ release activated Ca2+(CRAC) channel dysfunction is a form of CID characterized by recurrent infections, autoimmunity, congenital myopathy and ectodermal dysplasia. It comprises two sub-types that are due to mutations in the ORAI1 and STIM1 genes: CID due to ORAI1 deficiency and CID due to STIM1 deficiency.

ORPHA:169090

Classification level: Disorder
  • Synonym(s):
    • Immune dysfunction due to T-cell inactivation due to calcium entry defect
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.8
  • OMIM: 612782  612783
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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