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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.

ORPHA:540

Classification level: Disorder
  • Synonym(s):
    • Familial HLH
  • Prevalence: Unknown
  • Inheritance: Autosomal recessive 
  • Age of onset: Infancy, Adolescent
  • ICD-10: D76.1
  • ICD-11: 4A01.23
  • OMIM: 267700  603552  603553  608898  613101  618998
  • UMLS: C0272199
  • MeSH: -
  • GARD: 6589
  • MedDRA: 10070904

  A summary on this disease is available in Français (2014) Nederlands (2014) Español (2005) Italiano (2005) Deutsch (2003)

Detailed information

Disease review articles

ERN : produced/endorsed by ERN(s)
FSMR : produced/endorsed by FSMR(s)

Additional information

Further information on this disease

Patient-centred resources for this disease

Research activities on this disease

Specialised Social Services

The documents contained in this web site are presented for information purposes only. The material is in no way intended to replace professional medical care by a qualified specialist and should not be used as a basis for diagnosis or treatment.