title: Familial haemophagocytosis lymphohisticytosis type 3: A case report.
abstract: Familial hemophagocytic lymphohistiocytosis (FHL) is a rare autosomal recessive disorder of immune regulation. Here, we report on a fatal case of type 3 FHL (FHL3) in a 45-day-old boy. Clinically, the infant presented with fever and hepatosplenomegaly. Biology showed pancytopenia, elevated ferritin, and decreased fibrinogen. Images of hemophagocytosis were found at the bone morrow examination. The diagnosis of FHL type 3 was made by the identification of homozygous mutation in the Munc13-4 gene (UNC13D) located in exon 20: 1822 del 12bp (V608fs). This mutation was previously observed in a Tunisian and in Moroccan families.
authors.affiliation: Pediatrics department, Hedi Chaker hospital, route El Ain Km 0,5, 3029 Sfax, Tunisia; Faculty of medicine of Sfax, route El Ain Km 0,5, 3029 Sfax, Tunisia. Electronic address: kamounloukilfatma@yahoo.fr.
authors.forename: F
authors.initials: F
authors.lastname: Kamoun
authors.affiliation: Pediatrics department, Hedi Chaker hospital, route El Ain Km 0,5, 3029 Sfax, Tunisia; Faculty of medicine of Sfax, route El Ain Km 0,5, 3029 Sfax, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Hsairi
authors.affiliation: Centre d'études des déficits immunitaires, Assistance publique-Hôpitaux de Paris (AP-HP), hôpital Necker, 75015 Paris, France.
authors.forename: V
authors.initials: V
authors.lastname: Grandin
authors.affiliation: Pediatrics department, Hedi Chaker hospital, route El Ain Km 0,5, 3029 Sfax, Tunisia; Faculty of medicine of Sfax, route El Ain Km 0,5, 3029 Sfax, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Ben Ameur
authors.affiliation: Centre d'études des déficits immunitaires, Assistance publique-Hôpitaux de Paris (AP-HP), hôpital Necker, 75015 Paris, France; Inserm UMR1163, laboratory of normal and pathological homeostasis of the immune system, 75015 Paris, France; Paris Descartes university, Sorbonne Paris Cité, imagine institute, 75015 Paris, France.
authors.forename: G
authors.initials: G
authors.lastname: De Saint Basile
authors.affiliation: Pediatrics department, Hedi Chaker hospital, route El Ain Km 0,5, 3029 Sfax, Tunisia; Faculty of medicine of Sfax, route El Ain Km 0,5, 3029 Sfax, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Hachicha
mesh_terms: D017809:Fatal Outcome; D006801:Humans; D007223:Infant; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics*; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D009154:Mutation
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human