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Combined immunodeficiency due to DOCK8 deficiency

Disease definition

Combined immunodeficiency due to dedicator of cytokinesis 8 protein (DOCK8) deficiency is a form of T and B cell immunodeficiency characterized by recurrent cutaneous viral infections, susceptibility to cancer and elevated serum levels of immunoglobulin E (IgE).

ORPHA:217390

  • Synonym(s):
    • CID due to DOCK8 deficiency
    • Combined immunodeficiency due to dedicator of cytokinesis 8 protein deficiency
    • DOCK8 immunodeficiency syndrome
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Neonatal
  • ICD-10: D81.1
  • OMIM: 243700
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

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