loading page

Hemophagocytosis in children: when genetics gets involved…
  • +4
  • Benjamin Podvin,
  • Laurène Fenwarth,
  • Bénédicte Bruno,
  • Julie Demaret,
  • Genevieve de Saint Basile,
  • Wadih Abou Chahla,
  • Elise Fournier
Benjamin Podvin
CHRU de Lille CBP

Corresponding Author:[email protected]

Author Profile
Laurène Fenwarth
CHU Lille
Author Profile
Bénédicte Bruno
CHU Lille, Jeanne de Flandre hospital, Pediatric Hematology Department, Lille, France
Author Profile
Julie Demaret
CHRU de Lille CBP
Author Profile
Genevieve de Saint Basile
Hopital Necker-Enfants Malades
Author Profile
Wadih Abou Chahla
University hospital center of Lille
Author Profile
Elise Fournier
CHU Lille
Author Profile

Abstract

Familial Hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disease. It generally appears in childhood but atypical forms are also seen in adults. FHL is characterized by an excessive inflammatory response due to defects in NK and T-lymphocyte cytotoxicity. Clinical and biological diagnostic criteria are defined by the Histiocyte Society. Treatment includes the suppression of the excessive immune response followed by a hematopoietic stem cell transplant (HSCT). Diagnosis of FHL should include a genetic study in the proband and siblings to allow for preemptive measures.