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Combined immunodeficiency due to CD27 deficiency

Disease definition

A rare combined T and B cell immunodeficiency with a predisposition to lymphoproliferative syndrome. It is characterized by persistent symptomatic EBV-viremia and hypogammaglobulinemia variably presenting with fever, lymphadenopathy and systemic inflammatory conditions including hepatitis, pneumonia and sepsis. It may be associated with lymphoma, hemophagocytic lymphohistiocytosis, and aplastic anemia.

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: -

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