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, Jahrgang 47, Nr. 9, 9, 2010, S. 595-600.Publikationen: SCORING: Beitrag in Fachzeitschrift/Zeitung › SCORING: Zeitschriftenaufsatz › Forschung › Begutachtung
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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 -