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Combined immunodeficiency due to CD27 deficiency

Disease definition

A rare autosomal recessive primary immunodeficiency characterized by Epstein-Barr virus (EBV)-triggered lymphoprolipherative disorders such as malignant B-cell proliferation, Hodgkin lymphoma, B-cell lymphoma and EBV-driven hemophagocytic lymphohistiocytosis (HLH). Aplastic anemia and inflammatory disorders such as uveitis and oral ulcers are also observed.

ORPHA:238505

Classification level: Disorder
  • Synonym(s):
    • Autosomal recessive lymphoproliferative disease due to CD27 deficiency
    • CD27 deficiency
  • Prevalence: <1 / 1 000 000
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Adolescent, Adult, Childhood
  • ICD-10: D47.9
  • OMIM: 615122
  • UMLS: -
  • MeSH: -
  • GARD: -
  • MedDRA: -

Detailed information

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