title: Defective UNC13D gene-associated familial hemophagocytic lymphohistiocytosis triggered by visceral leishmaniasis: a diagnostic challenge.
abstract: BACKGROUND
  Visceral leishmaniasis (VL) triggered genetic hemophagocytic lymphohistiocytosis (HLH) is clinically challenging.
  
  
  METHODS
  One-year-old VL-HLH patient improved after liposomal-amphotericin-B therapy, but subsequently deteriorated, although bone marrow amastigotes disappeared. Symptoms resolved after 8 weeks of HLH-2004 therapy but recurred upon cessation. Homozygous UNC13D gene 627delT mutation was identified however stem cell donor was unavailable. The patient died at age 4 years after central nervous system attacks and HLH recurrences.
  
  
  CONCLUSIONS
  VL in HLH patients does not exclude a genetic etiology and requires structured clinical management. VL should be excluded in all HLH patients in endemic regions before immunochemotherapy, which is recommended for VL-HLH patients unresponsive to VL treatment and/or reactivated.
authors.affiliation: *Department of Pediatric Hematology, Faculty of Medicine, Hacettepe University †Department of Pediatric Hematology, Ankara Children's Hematology Oncology Hospital, Dişkapi, Ankara, Turkey.
authors.forename: Gunay
authors.initials: G
authors.lastname: Balta
authors.forename: Fatih M
authors.initials: FM
authors.lastname: Azik
authors.forename: Aytemiz
authors.initials: A
authors.lastname: Gurgey
mesh_terms: D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D007223:Infant; D007898:Leishmaniasis, Visceral / Q000150:complications* / Q000175:diagnosis*; D051359:Lymphohistiocytosis, Hemophagocytic / Q000235:genetics* / Q000469:parasitology*; D008565:Membrane Proteins / Q000235:genetics*
chemical_list: D008565:Membrane Proteins; C507969:UNC13D protein, human