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Combined immunodeficiency due to ZAP70 deficiency

Disease definition

Combined immunodeficiency due to ZAP70 deficiency is a very rare, severe, genetic, combined immunodeficiency disorder characterized by lymphocytosis, decreased peripheral CD8+ T-cells, and presence of normal circulating CD4+ T-cells, leading to immune dysfunction.

ORPHA:911

  • Synonym(s):
    • Zeta-associated-protein 70 deficiency
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Childhood
  • ICD-10: D81.8
  • OMIM: 269840
  • UMLS: C2931299
  • MeSH: -
  • GARD: 387
  • MedDRA: -

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