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


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.

SUBMITTER: Danielian S 

PROVIDER: S-EPMC7370861 | biostudies-literature | 2010 Mar

REPOSITORIES: biostudies-literature

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

Danielian Silvia S   Basile Natalia N   Rocco Carlos C   Prieto Emma E   Rossi Jorge J   Barsotti Darío D   Roche Paul A PA   Bernasconi Andrea A   Oleastro Matías M   Zelazko Marta M   Braier Jorge J  

Journal of clinical immunology 20091205 2


<h4>Introduction</h4>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.<h4>Materials and methods</h4>In this report, we evaluated three Argentinean patients with clinical suspicion of HLH, but without fa  ...[more]

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