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X-linked lymphoproliferative disease

Disease definition

X-linked lymphoproliferative disease is a hereditary immunodeficiency characterized, in the majority of cases, by an inadequate immune response to infection with the Epstein-Barr virus (EBV).

ORPHA:2442

  • Synonym(s):
    • Duncan disease
    • Purtilo syndrome
    • XLP
  • Prevalence: <1 / 1 000 000
  • Inheritance: X-linked recessive 
  • Age of onset: Childhood
  • ICD-10: D82.3
  • OMIM: 300635  308240
  • UMLS: C0549463
  • MeSH: D008232
  • GARD: 10915
  • MedDRA: 10068348

Detailed information

Professionals

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