Journal of Clinical Immunology

, Volume 30, Issue 2, pp 330–337

Novel Syntaxin 11 Gene (STX11) Mutation in Three Argentinean Patients with Hemophagocytic Lymphohistiocytosis

  • Silvia Danielian
  • Natalia Basile
  • Carlos Rocco
  • Emma Prieto
  • Jorge Rossi
  • Darío Barsotti
  • Paul A. Roche
  • Andrea Bernasconi
  • Matías Oleastro
  • Marta Zelazko
  • Jorge Braier
Article

DOI: 10.1007/s10875-009-9350-4

Cite this article as:
Danielian, S., Basile, N., Rocco, C. et al. J Clin Immunol (2010) 30: 330. doi:10.1007/s10875-009-9350-4

Abstract

Introduction

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.

Materials and 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.

Results and Conclusion

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.

Keywords

Familial hemophagocytic lymphohistiocytosisprimary immunodeficiencysyntaxin 11 genefounder mutation

Copyright information

© Springer Science+Business Media, LLC 2009

Authors and Affiliations

  • Silvia Danielian
    • 1
  • Natalia Basile
    • 1
  • Carlos Rocco
    • 2
  • Emma Prieto
    • 1
  • Jorge Rossi
    • 1
  • Darío Barsotti
    • 3
  • Paul A. Roche
    • 4
  • Andrea Bernasconi
    • 1
  • Matías Oleastro
    • 1
  • Marta Zelazko
    • 1
  • Jorge Braier
    • 3
  1. 1.Servicio de Inmunologia y ReumatologiaHospital de Pediatria Juan P GarrahanBuenos AiresArgentina
  2. 2.Laboratorio de Biología Celular y RetrovirusHospital de Pediatria Juan P GarrahanBuenos AiresArgentina
  3. 3.Servicio de Hematologia/OncologiaHospital de Pediatria Juan P GarrahanBuenos AiresArgentina
  4. 4.Experimental Immunology Branch, National Cancer InstituteNational Institutes of HealthBethesdaUSA