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

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 anot...

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Bibliographic Details
Published in:Journal of clinical immunology 2010-03, Vol.30 (2), p.330-337
Main Authors: Danielian, Silvia, Basile, Natalia, Rocco, Carlos, Prieto, Emma, Rossi, Jorge, Barsotti, Darío, Roche, Paul A, Bernasconi, Andrea, Oleastro, Matías, Zelazko, Marta, Braier, Jorge
Format: Article
Language:English
Subjects:
Argentina
Biomedical and Life Sciences
Biomedicine
Diagnosis, Differential
DNA Mutational Analysis
Family
Female
Genetic Predisposition to Disease
Genotype
Haplotypes
Hematopoietic Stem Cell Transplantation
Humans
Immunology
Infant
Infections
Infectious Diseases
Internal Medicine
Lymphohistiocytosis, Hemophagocytic - diagnosis
Lymphohistiocytosis, Hemophagocytic - genetics
Lymphohistiocytosis, Hemophagocytic - physiopathology
Medical Microbiology
Neutropenia
Pedigree
Polymorphism, Single Nucleotide
Qa-SNARE Proteins - genetics
Sequence Deletion - genetics
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Summary: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.
ISSN:0271-9142
1573-2592
DOI:10.1007/s10875-009-9350-4