Document Type : Original Article

Authors

• Samira Aggoune ¹
• Hachemi Maouche ²
• Linda Chikhi ³
• Feriel Mekimene ³
• Samir Benmamar ³
• Despina Moshous ⁴
• Capucine Picard ⁵
• Genevieve De Saint Basile ⁵
• Jean Donadieu ⁶
• Guy Leverger ⁷

¹ Ph.D, Departement of Pediatric’s, University Teaching Hospital, Belfort, Algier’s, Algeria

² Departement of Pediatric’s, University Teaching Hospital, Belfort, Algier’s, Algeria.

³ Departement of Hemobiology University Teaching Hospital Mustapha Bacha, Algier’s, Algeria.

⁴ Center for the Study of Immune Deficits Tour, University Teaching Hospital Necker, Paris, France.

⁵ Center of Normal and Pathological Homeostasis of the Immune System Laboratory, University Teaching Hospital Necker, Paris, France.

⁶ Unit of Pediatric Immunology, Hematology and Rheumatology (UIHR); University Teaching Hospital Necker, Paris, France

⁷ Pediatric Hemato-Oncology Department, University Teaching Hospital Trousseau Paris, France.

Abstract

Familial haemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune dysregulation associated with uncontrolled T cell and macrophage activation and hypercytokinaemia. HLH affects primarily pediatric population, mainly infants of less than 3 months of age. It is important to have a high index of suspicion for diagnosis since an early diagnosis is crucial to decrease the significant mortality associated the disease. This article gives a case historie and review the varied clinical presentations, pathophysiology, prognosis and treatment of the entity.

Keywords

• Cytopenia
• Fever
• Consanguinitie
• Macrophage activation
• Childhood