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

作者：Danielian Silvia^*; Basile Natalia; Rocco Carlos; Prieto Emma; Rossi Jorge; Barsotti Dario; Roche Paul A; Bernasconi Andrea; Oleastro Matias; Zelazko Marta; Braier Jorge

来源：Journal of Clinical Immunology, 2010, 30(2): 330-337.

DOI：10.1007/s10875-009-9350-4

• Familial hemophagocytic lymphohistiocytosis
• primary immunodeficiency
• syntaxin 11 gene
• founder mutation

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.
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.
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.

• 出版日期2010-3