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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

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STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. / Cetica, Valentina; Santoro, Alessandra; Gilmour, Kimberly C; Sieni, Elena; Beutel, Karin; Pende, Daniela; Marcenaro, Stefania; Koch, Florian; Grieve, Samantha; Wheeler, Rachel; Zhao, Fang; Zur Stadt, Udo; Griffiths, Gillian M; Aricò, Maurizio.

In: J MED GENET, Vol. 47, No. 9, 9, 2010, p. 595-600.

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Harvard

Cetica, V, Santoro, A, Gilmour, KC, Sieni, E, Beutel, K, Pende, D, Marcenaro, S, Koch, F, Grieve, S, Wheeler, R, Zhao, F, Zur Stadt, U, Griffiths, GM & Aricò, M 2010, 'STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.', J MED GENET, vol. 47, no. 9, 9, pp. 595-600. <http://www.ncbi.nlm.nih.gov/pubmed/20798128?dopt=Citation>

APA

Cetica, V., Santoro, A., Gilmour, K. C., Sieni, E., Beutel, K., Pende, D., Marcenaro, S., Koch, F., Grieve, S., Wheeler, R., Zhao, F., Zur Stadt, U., Griffiths, G. M., & Aricò, M. (2010). STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J MED GENET, 47(9), 595-600. [9]. http://www.ncbi.nlm.nih.gov/pubmed/20798128?dopt=Citation

Vancouver

Cetica V, Santoro A, Gilmour KC, Sieni E, Beutel K, Pende D et al. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J MED GENET. 2010;47(9):595-600. 9.

Bibtex

@article{d25c0d9b47fc4859abd97871874ee94e,
title = "STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.",
abstract = "Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is usually fatal unless promptly treated and then cured with haematopoietic stem cell transplant. FHL is caused by genetic mutations resulting in defective cell cytotoxicity; three disease related genes have been identified to date: perforin, Munc13-4 and syntaxin-11. A fourth gene, STXBP2, has been identified very recently as responsible for a defect in Munc18-2 in FHL-5.",
keywords = "Humans, Male, Female, Child, Child, Preschool, Infant, Mutation genetics, Alleles, Flow Cytometry, Cell Degranulation, Cytotoxicity, Immunologic, Immunoprecipitation, Lymphohistiocytosis, Hemophagocytic classification, Lysosomal-Associated Membrane Protein 1 metabolism, Munc18 Proteins genetics, T-Lymphocytes, Cytotoxic physiology, Humans, Male, Female, Child, Child, Preschool, Infant, Mutation genetics, Alleles, Flow Cytometry, Cell Degranulation, Cytotoxicity, Immunologic, Immunoprecipitation, Lymphohistiocytosis, Hemophagocytic classification, Lysosomal-Associated Membrane Protein 1 metabolism, Munc18 Proteins genetics, T-Lymphocytes, Cytotoxic physiology",
author = "Valentina Cetica and Alessandra Santoro and Gilmour, {Kimberly C} and Elena Sieni and Karin Beutel and Daniela Pende and Stefania Marcenaro and Florian Koch and Samantha Grieve and Rachel Wheeler and Fang Zhao and {Zur Stadt}, Udo and Griffiths, {Gillian M} and Maurizio Aric{\`o}",
year = "2010",
language = "Deutsch",
volume = "47",
pages = "595--600",
journal = "J MED GENET",
issn = "0022-2593",
publisher = "BMJ PUBLISHING GROUP",
number = "9",

}

RIS

TY - JOUR

T1 - STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5.

AU - Cetica, Valentina

AU - Santoro, Alessandra

AU - Gilmour, Kimberly C

AU - Sieni, Elena

AU - Beutel, Karin

AU - Pende, Daniela

AU - Marcenaro, Stefania

AU - Koch, Florian

AU - Grieve, Samantha

AU - Wheeler, Rachel

AU - Zhao, Fang

AU - Zur Stadt, Udo

AU - Griffiths, Gillian M

AU - Aricò, Maurizio

PY - 2010

Y1 - 2010

N2 - Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is usually fatal unless promptly treated and then cured with haematopoietic stem cell transplant. FHL is caused by genetic mutations resulting in defective cell cytotoxicity; three disease related genes have been identified to date: perforin, Munc13-4 and syntaxin-11. A fourth gene, STXBP2, has been identified very recently as responsible for a defect in Munc18-2 in FHL-5.

AB - Familial haemophagocytic lymphohistiocytosis (FHL) is a rare immune deficiency with uncontrolled inflammation; the clinical course usually starts within the first years of life, and is usually fatal unless promptly treated and then cured with haematopoietic stem cell transplant. FHL is caused by genetic mutations resulting in defective cell cytotoxicity; three disease related genes have been identified to date: perforin, Munc13-4 and syntaxin-11. A fourth gene, STXBP2, has been identified very recently as responsible for a defect in Munc18-2 in FHL-5.

KW - Humans

KW - Male

KW - Female

KW - Child

KW - Child, Preschool

KW - Infant

KW - Mutation genetics

KW - Alleles

KW - Flow Cytometry

KW - Cell Degranulation

KW - Cytotoxicity, Immunologic

KW - Immunoprecipitation

KW - Lymphohistiocytosis, Hemophagocytic classification

KW - Lysosomal-Associated Membrane Protein 1 metabolism

KW - Munc18 Proteins genetics

KW - T-Lymphocytes, Cytotoxic physiology

KW - Humans

KW - Male

KW - Female

KW - Child

KW - Child, Preschool

KW - Infant

KW - Mutation genetics

KW - Alleles

KW - Flow Cytometry

KW - Cell Degranulation

KW - Cytotoxicity, Immunologic

KW - Immunoprecipitation

KW - Lymphohistiocytosis, Hemophagocytic classification

KW - Lysosomal-Associated Membrane Protein 1 metabolism

KW - Munc18 Proteins genetics

KW - T-Lymphocytes, Cytotoxic physiology

M3 - SCORING: Zeitschriftenaufsatz

VL - 47

SP - 595

EP - 600

JO - J MED GENET

JF - J MED GENET

SN - 0022-2593

IS - 9

M1 - 9

ER -