Orphanet: Familial hemophagocytic lymphohistiocytosis

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Familial hemophagocytic lymphohistiocytosis

Disease definition

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare primary immunodeficiency characterized by a macrophage activation syndrome (see this term) with an onset usually occurring within a few months or less common several years after birth.


Classification level: Disorder
  • Synonym(s):
    • Familial HLH
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Adolescent
  • ICD-10: D76.1
  • OMIM: 267700  603552  603553  608898  613101
  • UMLS: C0272199
  • MeSH: -
  • GARD: 6589
  • MedDRA: 10070904

Detailed information


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