title: Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.
abstract: BACKGROUND
  Hemophagocytic lymphohistiocytosis (HLH) is a life-threatening disease with major diagnostic and therapeutic difficulties, basically comprising two different conditions: primary and secondary forms. Recent advances regarding molecular diagnosis may be useful to distinguish from one another, especially in sporadic cases starting in early infancy.
  
  
  METHODS
  In this report, we evaluated three Argentinean patients with clinical suspicion of HLH, but without family history. We excluded mutations in the perforin gene but identified in the three patients a novel homozygous deletion (c. 581_584delTGCC; p.Leu194ProfsX2) in the gene-encoding syntaxin 11 (STX11), causing a premature termination codon.
  
  
  CONCLUSIONS
  Each parent from the three unrelated families resulted heterozygous for this deletion confirming the diagnosis of familial hemophagocytic lymphohistiocytosis type 4. Patients shared the same single-nucleotide polymorphism profile in STX11 gene, and genotyping at ten microsatellites surrounding this gene support the presence of a single-haplotype block carrying the novel mutation.
authors.affiliation: Servicio de Inmunologia y Reumatologia, Hospital de Pediatria Juan P Garrahan, Buenos Aires, Argentina. danielian.silvia@gmail.com
authors.forename: Silvia
authors.initials: S
authors.lastname: Danielian
authors.forename: Natalia
authors.initials: N
authors.lastname: Basile
authors.forename: Carlos
authors.initials: C
authors.lastname: Rocco
authors.forename: Emma
authors.initials: E
authors.lastname: Prieto
authors.forename: Jorge
authors.initials: J
authors.lastname: Rossi
authors.forename: Darío
authors.initials: D
authors.lastname: Barsotti
authors.forename: Paul A
authors.initials: PA
authors.lastname: Roche
authors.forename: Andrea
authors.initials: A
authors.lastname: Bernasconi
authors.forename: Matías
authors.initials: M
authors.lastname: Oleastro
authors.forename: Marta
authors.initials: M
authors.lastname: Zelazko
authors.forename: Jorge
authors.initials: J
authors.lastname: Braier
mesh_terms: D001118:Argentina; D004252:DNA Mutational Analysis; D003937:Diagnosis, Differential; D005190:Family; D005260:Female; D020022:Genetic Predisposition to Disease; D005838:Genotype; D006239:Haplotypes; D018380:Hematopoietic Stem Cell Transplantation; D006801:Humans; D007223:Infant; D007239:Infections; D051359:Lymphohistiocytosis, Hemophagocytic / Q000175:diagnosis* / Q000235:genetics* / Q000503:physiopathology; D009503:Neutropenia; D010375:Pedigree; D020641:Polymorphism, Single Nucleotide; D050765:Qa-SNARE Proteins / Q000235:genetics*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D050765:Qa-SNARE Proteins