STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5

Journal of Medical Genetics

Volumn 47, Issue 9, 2010, Pages 595-600

  Cetica, Valentina ^a   Santoro, Alessandra ^b   Gilmour, Kimberly C ^c   Sieni, Elena ^a   Beutel, Karin ^a   Pende, Daniela ^d   Marcenaro, Stefania ^e   Koch, Florian ^f,g   Grieve, Samantha ^h   Wheeler, Rachel ^c   Zhao, Fang ^h   Stadt, Udo Zur ^f,g   Griffiths, Gillian M ^h   Aricò, Maurizio ^a  

^a UNIVERSITY OF FLORENCE   (Italy)

^b AO Ospedali Riuniti Villa Sofia Cervello   (Italy)

^c GREAT ORMOND STREET HOSPITAL   (United Kingdom)

^d UNIVERSITY OF GENOA   (Italy)

^e UNIVERSITY OF GENOA   (Italy)

^f Research Institute Children's Cancer Center   (Germany)

^g UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^h ADDENBROOKE S HOSPITAL   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

MEMBRANE PROTEIN; MUNC13 14 PROTEIN; PERFORIN; SYNTAXIN; SYNTAXIN 11; UNCLASSIFIED DRUG;

ARTICLE; CD8+ T LYMPHOCYTE; CHILD; CONTROLLED STUDY; CYTOTOXICITY; DEGRANULATION; DISEASE COURSE; FAMILIAL DISEASE; FEMALE; FUNCTIONAL ASSESSMENT; GENE IDENTIFICATION; GENE MUTATION; GENE SEQUENCE; GEOGRAPHIC DISTRIBUTION; HEMATOPOIETIC STEM CELL TRANSPLANTATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; IMMUNE DEFICIENCY; IMMUNOPRECIPITATION; MAJOR CLINICAL STUDY; MALE; MOLECULAR CLONING; NATURAL KILLER CELL; NUCLEOTIDE SEQUENCE; PRIORITY JOURNAL; RARE DISEASE; WESTERN BLOTTING;

ALLELES; CELL DEGRANULATION; CHILD; CHILD, PRESCHOOL; CYTOTOXICITY, IMMUNOLOGIC; FEMALE; FLOW CYTOMETRY; HUMANS; IMMUNOPRECIPITATION; INFANT; LYMPHOHISTIOCYTOSIS, HEMOPHAGOCYTIC; LYSOSOMAL-ASSOCIATED MEMBRANE PROTEIN 1; MALE; MUNC18 PROTEINS; MUTATION; T-LYMPHOCYTES, CYTOTOXIC;

EID: 77956109360     PISSN: 00222593     EISSN: 14686244     Source Type: Journal    
DOI: 10.1136/jmg.2009.075341     Document Type: Article

References (32)

1. Aricò M, Janka G, Fischer A, Henter JI, Blanche S, Elinder G, Martinetti M, Rusca MP. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL study group of the histiocyte society. Leukemia 1996;10:197-203.
2. Henter JI, Samuelsson-Horne A, Aricò M, Egeler RM, Elinder G, Filipovich AH, Gadner H, Imashuku S, Komp D, Ladisch S, Webb D, Janka G; Histocyte Society. Treatment of hemophagocytic lymphohistiocytosis with HLH-94 immunochemotherapy and bone marrow transplantation. Blood 2002;100:2367-73.
3. Janka GE, Schneider EM. Modern management of children with haemophagocytic lymphohistiocytosis. Br J Haematol 2004;124:4-14.
4. Mahlaoui N, Ouachee-Chardin M, de Saint Basile G, Neven B, Picard C, Blanche S, Fischer A. Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients. Pediatrics Published Online First 14 Aug 2007;120:e622-8. doi:10.1542/peds.2006-3164.
5. Jabado N, de Graeff-Meeder ER, Cavazzana-Calvo M, Haddad E, Le Deist F, Benkerrou M, Dufourcq R, Caillat S, Blanche S, Fischer A. Treatment of familial hemophagocytic lymphohistiocytosis with bone marrow transplantation from HLA genetically nonidentical donors. Blood 1997;90:4743-8.
6. Durken M, Horstmann M, Bieling P, Erttmann R, Kabisch H, Loliger C, Schneider EM, Hellwege HH, Kruger W, Kroger N, Zander AR, Janka GE. Improved outcome in haemophagocytic lymphohistiocytosis after bone marrow transplantation from related and unrelated donors: a single-centre experience of 12 patients. Br J Haematol 1999;106:1052-8.
7. Horne A, Janka G, Egeler MR, Gadner H, Imashuku S, Ladisch S, Locatelli F, Montgomery SM, Webb D, Winiarski J, Filipovich AH, Henter JI. Histiocyte Society. Haematopoietic stem cell transplantation in haemophagocytic lymphohistiocytosis. Br J Haematol 2005;129:622-30.
8. Baker KS, Filipovich AH, Gross TG, Grossman WJ, Hale GA, Hayashi RJ, Kamani NR, Kurian S, Kapoor N, Ringdén O, Eapen M. Unrelated donor hematopoietic cell transplantation for hemophagocytic lymphohistiocytosis. Bone Marrow Transplant Published Online First: 5 May 2008;42:175-80.
9. Cooper N, Rao K, Goulden N, Webb D, Amrolia P, Veys P. The use of reducedintensity stem cell transplantation in haemophagocytic lymphohistiocytosis and Langerhans cell histiocytosis. Bone Marrow Transplant 2008;42(Suppl 2):S47-50. Review.
10. Cesaro S, Locatelli F, Lanino E, Porta F, Di Maio L, Messina C, Prete A, Ripaldi M, Maximova N, Giorgiani G, Rondelli R, Aricò M, Fagioli F. Hematopoietic stem cell transplantation for hemophagocytic lymphohistiocytosis: a retrospective analysis of data from the Italian Association of Pediatric Hematology Oncology (AIEOP). Haematologica Published Online First: 2 Sep 2008;93:1694-701.
11. Aricò M, Allen M, Brusa S, Clementi R, Pende D, Maccario R, Moretta L, Danesino C. Haemophagocytic lymphohistiocytosis: proposal of a diagnostic algorithm based on perforin expression. Br J Haematol 2002; 119:180-8.
12. Henter JI, Elinder G, Ost A. Diagnostic guidelines for hemophagocytic lymphohistiocytosis. The FHL Study Group of the Histiocyte Society. Semin Oncol 1991;18:29-33.
13. Henter JI, Horne A, Aricò M, Egeler RM, Filipovich AH, Imashuku S, Ladisch S, McClain K, Webb D, Winiarski J, Janka G. HLH-2004: Diagnostic and therapeutic guidelines for Hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer 2007;48:124-31.
14. Perez N, Virelizier JL, Arenzana-Seisdedos F, Fischer A, Griscelli C. Impaired natural killer activity in lymphohistiocytosis syndrome. J Pediatr 1984;104:569-73.
15. Aricò M, Nespoli L, Maccario R, Montagna D, Bonetti F, Caselli D, Burgio GR. Natural cytotoxicity impairment in familial haemophagocytic lymphohistiocytosis. Arch Dis Child 1988;63:292-6.
16. Schneider EM, Lorenz I, Muller-Rosenberger M, Steinbach G, Kron M, Janka-Schaub GE. Hemophagocytic lymphohistiocytosis is associated with deficiencies of cellular cytolysis but normal expression of transcripts relevant to killer-cell-induced apoptosis. Blood 2002;100:2891-8.
17. Farquhar J, Claireaux A. Familial haemophagocytic reticulosis. Archives of Diseases in Childhood 1952;27:519-25.
18. Ohadi M, Lalloz MR, Sham P, Zhao J, Dearlove AM, Shiach C, Kinsey S, Rhodes M, Layton DM. Localization of a gene for familial hemophagocytic lymphohistiocytosis at chromosome 9q21.3e22 by homozygosity mapping. Am J Hum Genet 1999;64:165-171.
19. Dufurcq-Lagelouse R, Jabado N, Le Deist F, Stéphan JL, Souillet G, Bruin M, Vilmer E, Schneider M, Janka G, Fischer A, de Saint Basile G. Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. Am J Hum Genet 1999;64:172-9.
20. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, Bhawan S, Certain S, Mathew PA, Henter JI, Bennett M, Fischer A, de Saint Basile G, Kumar V. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science 1999;286:1957-9.
21. Trizzino A, zur Stadt U, Ueda I, Risma K, Janka G, Ishii E, Beutel K, Sumegi J, Cannella S, Pende D, Mian A, Henter JI, Griffiths G, Santoro A, Filipovich A, Aricò M. Histiocyte Society HLH Study group. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet Published Online First: 14 Sep 2008;45:15-21.
22. Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachee-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell 2003;115:461-73.
23. Zur Stadt U, Beutel K, Kolberg S, Schneppenheim R, Kabisch H, Janka G, Hennies HC. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat 2006;27:62-8.
24. zur Stadt U, Rohr J, Seifert W, Koch F, Grieve S, Pagel J, Strauss J, Kasper B, Nürnberg G, Becker C, Maul-Pavicic A, Beutel K, Janka G, Griffiths G, Ehl S, Hennies HC. Familial Hemophagocytic Lymphohistiocytosis Type 5 (FHL-5) Is Caused by Mutations in Munc18-2 and Impaired Binding to Syntaxin 11. Am J Hum Genet 2009;85:482-92.
25. Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest 2009:40732. doi: 10.1172/JCI40732.
26. Marcenaro S, Gallo F, Martini S, Santoro A, Griffiths GM, Aricò M, Moretta L, Pende D. Analysis of natural killer-cell function in familial Hemophagocytic lymphohistiocytosis (FHL): defective CD107a surface expression heralds Munc13-4 defect and discriminates between genetic subtypes of the disease. Blood Published Online First: 15 Jun 2006;108:2316-23.
27. Clark RH, Stinchcombe JC, Day A, Blott E, Booth S, Bossi G, Hamblin T, Davies EG, Griffiths GM. Adaptor protein 3-dependent microtubule-mediated movement of lytic granules to the immunological synapse. Nat Immunol Published Online First: 19 Oct 2003;4:1111-20. PMID: 14566336
28. Notarangelo LD, Sorensen R. Is it necessary to identify molecular defects in primary immunodeficiency disease?. J Allergy Clin. Immunol 2008;122:1069-73.
29. Clementi R, zur Stadt U, Savoldi G, Varotto S, Conter V, De Fusco C, Notarangelo LD, Schneider M, Klersy C, Janka G, Danesino C, Aricò M. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet 2001;38:643-6.
30. Santoro A, Cannella S, Bossi G, Gallo F, Trizzino A, Pende D, Dieli F, Bruno G, Stinchcombe JC, Micalizzi C, De Fusco C, Danesino C, Moretta L, Notarangelo LD, Griffiths GM, Aricò M. Novel Munc13-4 mutations in children and young adult patients with haemophagocytic lymphohistiocytosis. J Med Genet 2006;43:953-60.
31. Riento K, Kauppi M, Keranen S, Olkkonen VM. Munc18-2, a functional partner of syntaxin 3, controls apical membrane trafficking in epithelial cells. J Biol Chem2000;275:13476-83.
32. Bryceson YT, Rudd E, Zheng C, Edner J, Ma D, Wood SM, Bechensteen AG, Boelens JJ, Celkan T, Farah RA, Hultenby K, Winiarski J, Roche PA, Nordenskjöld M, Henter JI, Long EO, Ljunggren HG. Defective cytotoxic lymphocyte degranulation in syntaxin-11 deficient familial hemophagocytic lymphohistiocytosis (FHL4) patients. Blood Published Online First: 24 May 2007;15:1906-15.