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J Clin Immunol. 2010 Mar;30(2):330-7. doi: 10.1007/s10875-009-9350-4. Epub 2009 Dec 5.

Novel syntaxin 11 gene (STX11) mutation in three Argentinean patients with hemophagocytic lymphohistiocytosis.

Author information

1
Servicio de Inmunologia y Reumatologia, Hospital de Pediatria Juan P Garrahan, Buenos Aires, Argentina. danielian.silvia@gmail.com

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.

PMID:
19967551
DOI:
10.1007/s10875-009-9350-4
[Indexed for MEDLINE]
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