Distinct mutations in STXBP2 are associated with variable clinical presentations in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL5)

Blood

Volumn 119, Issue 25, 2012, Pages 6016-6024

  Pagel, Julia ^a   Beutel, Karin ^b,c   Lehmberg, Kai ^b   Koch, Florian ^a   Maul Pavicic, Andrea ^d   Rohlfs, Anna Katharina ^b   Al Jefri, Abdullah ^e   Beier, Rita ^f   Ousager, Lilian Bomme ^g   Ehlert, Karoline ^c   Gross Wieltsch, Ute ^h   Jorch, Norbert ⁱ   Kremens, Bernhard ^j   Pekrun, Arnulf ^k   Sparber Sauer, Monika ^l   Mejstrikova, Ester ^m   Wawer, Angela ⁿ   Ehl, Stephan ^d   Zur Stadt, Udo ^a,b   Janka, Gritta ^b  

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

^b UNIVERSITY MEDICAL CENTER HAMBURG EPPENDORF   (Germany)

^c UNIVERSITY HOSPITAL MÜNSTER   (Germany)

^d UNIVERSITY OF FREIBURG   (Germany)

^e KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^f HANNOVER MEDICAL SCHOOL   (Germany)

^g ODENSE UNIVERSITY HOSPITAL   (Denmark)

^h OLGAHOSPITAL   (Germany)

ⁱ Gilead Children's Hospital   (Germany)

^j UNIVERSITY OF DUISBURG ESSEN   (Germany)

^k Prof Hess Children's Hospital   (Germany)

^l UNIVERSITY OF ULM   (Germany)

^m CHARLES UNIVERSITY   (Czech Republic)

ⁿ TECHNICAL UNIVERSITY OF MUNICH   (Germany)

more..

Author keywords

[No Author keywords available]

Indexed keywords

PEPTIDES AND PROTEINS; STXBP2 PROTEIN; UNCLASSIFIED DRUG;

ADOLESCENT; ADULT; ARTICLE; BLEEDING; CHILD; CLINICAL FEATURE; DEGRANULATION; DIARRHEA; ETHNICITY; EXON; FAMILIAL HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS TYPE 5; FAMILY; GENE MUTATION; GENETIC ANALYSIS; GENETIC ASSOCIATION; GENOTYPE; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; INFANT; MISSENSE MUTATION; NATURAL KILLER CELL; PERCEPTION DEAFNESS; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; SCHOOL CHILD;

EID: 84862749911     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-12-398958     Document Type: Article

References (45)

1. Henter JI, Horne A, Arico M, et al. HLH-2004: diagnostic and therapeutic guidelines for hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;48(2):124-131. (Pubitemid 44958267)
2. Arico M, Janka G, Fischer A, et al. Hemophagocytic lymphohistiocytosis. Report of 122 children from the International Registry. FHL Study Group of the Histiocyte Society. Leukemia. 1996;10(2):197-203. (Pubitemid 26102881)
3. Janka GE. Hemophagocytic syndromes. Blood Rev. 2007;21(5):245-253. (Pubitemid 47212601)
4. Filipovich AH. Hemophagocytic lymphohistiocytosis (HLH) and related disorders. Hematology Am Soc Hematol Educ Program. 2009;2009:127-131.
5. Stepp SE, Dufourcq-Lagelouse R, Le Deist F, et al. Perforin gene defects in familial hemophagocytic lymphohistiocytosis. Science. 1999;286(5446):1957- 1959. (Pubitemid 129515904)
6. Feldmann J, Callebaut I, Raposo G, et al. Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3). Cell. 2003;115(4):461-473. (Pubitemid 37456808)
7. zur Stadt U, Schmidt S, Kasper B, et al. Linkage of familial hemophagocytic lymphohistiocytosis (FHL) type-4 to chromosome 6q24 and identification of mutations in syntaxin 11. Hum Mol Genet. 2005;14(6):827-834. (Pubitemid 40403278)
8. Menasche G, Pastural E, Feldmann J, et al. Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome. Nat Genet. 2000;25(2):173-176. (Pubitemid 30394987)
9. Nagle DL, Karim MA, Woolf EA, et al. Identification and mutation analysis of the complete gene for Chediak-Higashi syndrome. Nat Genet. 1996;14(3):307-311. (Pubitemid 126449765)
10. Enders A, Zieger B, Schwarz K, et al. Lethal hemophagocytic lymphohistiocytosis in Hermansky-Pudlak syndrome type II. Blood. 2006;108(1):81-87. (Pubitemid 43990615)
11. Coffey AJ, Brooksbank RA, Brandau O, et al. Host response to EBV infection in X-linked lymphoproliferative disease results from mutations in an SH2-domain encoding gene. Nat Genet. 1998;20(2):129-135. (Pubitemid 28455444)
12. Filipovich AH, Zhang K, Snow AL, Marsh RA. X-linked lymphoproliferative syndromes: brothers or distant cousins? Blood. 2010;116(18):3398-3408.
13. Marsh RA, Madden L, Kitchen BJ, et al. XIAP deficiency: a unique primary immunodeficiency best classified as X-linked familial hemophagocytic lymphohistiocytosis and not as X-linked lymphoproliferative disease. Blood. 2010;116(7):1079-1082.
14. Rigaud S, Fondaneche MC, Lambert N, et al. XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome. Nature. 2006; 444(7115):110-114. (Pubitemid 44684766)
15. Palendira U, Low C, Chan A, et al. Molecular pathogenesis of EBV susceptibility in XLP as revealed by analysis of female carriers with heterozygous expression of SAP. PLoS Biol. 2011;9(11):e1001187.
16. Stinchcombe J, Bossi G, Griffiths GM. Linking albinism and immunity: the secrets of secretory lysosomes. Science. 2004;305(5680):55-59. (Pubitemid 38869367)
17. de Saint Basile G, Menasche G, Fischer A. Molecular mechanisms of biogenesis and exocytosis of cytotoxic granules. Nat Rev Immunol. 2010;10(8):568-579.
18. Janka GE. Familial and acquired hemophagocytic lymphohistiocytosis. Eur J Pediatr. 2007;166(2):95-109. (Pubitemid 46025500)
19. Pachlopnik Schmid J, Cote M, Menager MM, et al. Inherited defects in lymphocyte cytotoxic activity. Immunol Rev. 2010;235(1):10-23.
20. zur Stadt U, Rohr J, Seifert W, et al. 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(4):482-492.
21. Cote M, Menager MM, Burgess A, et al. Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells. J Clin Invest. 2009;119(12):3765-3773.
22. Brochetta C, Vita F, Tiwari N, et al. Involvement of Munc18 isoforms in the regulation of granule exocytosis in neutrophils. Biochim Biophys Acta. 2008;1783(10):1781-1791.
23. Martin-Verdeaux S, Pombo I, Iannascoli B, et al. Evidence of a role for Munc18-2 and microtubules in mast cell granule exocytosis. J Cell Sci. 2003;116(pt 2):325-334. (Pubitemid 36163873)
24. 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 Chem. 2000;275(18):13476-13483. (Pubitemid 30257412)
25. Cetica V, Santoro A, Gilmour KC, et al. STXBP2 mutations in children with familial haemophagocytic lymphohistiocytosis type 5. J Med Genet. 2010;47(9):595-600.
26. Meeths M, Entesarian M, Al-Herz W, et al. Spectrum of clinical presentations in familial hemophagocytic lymphohistiocytosis type 5 patients with mutations in STXBP2. Blood. 2010;116(15):2635-2643.
27. Rohr J, Beutel K, Maul-Pavicic A, et al. Atypical familial hemophagocytic lymphohistiocytosis due to mutations in UNC13D and STXBP2 overlaps with primary immunodeficiency diseases. Haematologica. 2010;95(12):2080-2087.
28. Nagai K, Yamamoto K, Fujiwara H, et al. Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes. PLoS One. 2010;5(11):e14173.
29. Matthes-Martin S, Peters C, Konigsrainer A, et al. Successful stem cell transplantation following orthotopic liver transplantation from the same haploidentical family donor in a girl with hemophagocytic lymphohistiocytosis. Blood. 2000;96(12):3997-3999.
30. Kapelari K, Fruehwirth M, Heitger A, et al. Loss of intrahepatic bile ducts: an important feature of familial hemophagocytic lymphohistiocytosis. Virchows Arch. 2005;446(6):619-625. (Pubitemid 40922267)
31. Beutel K, Gross-Wieltsch U, Wiesel T, Stadt UZ, Janka G, Wagner HJ. Infection of T lymphocytes in Epstein-Barr virus-associated hemophagocytic lymphohistiocytosis in children of non-Asian origin. Pediatr Blood Cancer. 2009;53(2):184-190.
32. Bryceson YT, Pende D, Maul-Pavicic A, et al. A prospective evaluation of degranulation assays in the rapid diagnosis of familial hemophagocytic syndromes. Blood. 2012;119(12):2754-2763.
33. Sandrock K, Nakamura L, Vraetz T, Beutel K, Ehl S, Zieger B. Platelet secretion defect in patients with familial hemophagocytic lymphohistiocytosis type 5 (FHL-5). Blood. 2010;116(26):6148-6150.
34. Sieni E, Cetica V, Santoro A, et al. Genotypephenotype study of familial haemophagocytic lymphohistiocytosis type 3. J Med Genet. 2011;48(5):343-352.
35. Trizzino A, zur Stadt U, Ueda I, et al. Genotypephenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008;45(1):15-21. (Pubitemid 351158153)
36. Horne A, Ramme KG, Rudd E, et al. Characterization of PRF1, STX11 and UNC13D genotypephenotype correlations in familial hemophagocytic lymphohistiocytosis. Br J Haematol. 2008;143(1):75-83.
37. Ziegler SF, Mortrud MT, Swartz AR, et al. Molecular characterization of a nonneuronal human UNC18 homolog. Genomics. 1996;37(1):19-23. (Pubitemid 26341829)
38. Riento K, Jantti J, Jansson S, et al.Asec1-related vesicle-transport protein that is expressed predominantly in epithelial cells. Eur J Biochem. 1996;239(3):638-646. (Pubitemid 26253035)
39. Riento K, Galli T, Jansson S, Ehnholm C, Lehtonen E, Olkkonen VM. Interaction of Munc-18-2 with syntaxin 3 controls the association of apical SNAREs in epithelial cells. J Cell Sci. 1998;111(Pt 17):2681-2688. (Pubitemid 28474970)
40. Imashuku S, Kohdera U, Teramura T, et al. Sensorineural hearing loss in a case of familial hemophagocytic lymphohistiocytosis. Pediatr Blood Cancer. 2007;49(6):856-858. (Pubitemid 47519528)
41. Gurtler N, Kim Y, Mhatre A, Schlegel C, Mathis A, Lalwani AK. DFNA54, a third locus for low-frequency hearing loss. J Mol Med (Berl). 2004; 82(11):775-780. (Pubitemid 40022272)
42. Stapells DR, Gravel JS, Martin BA. Thresholds for auditory brain stem responses to tones in notched noise from infants and young children with normal hearing or sensorineural hearing loss. Ear Hear. 1995;16(4):361-371.
43. Semaan MT, Megerian CA. Contemporary perspectives on the pathophysiology of Meniere's disease: implications for treatment. Curr Opin Otolaryngol Head Neck Surg. 2010;18(5):392-398.
44. Clementi R, Locatelli F, Dupre L, et al. A proportion of patients with lymphoma may harbor mutations of the perforin gene. Blood. 2005;105(11):4424- 4428.
45. Rudd E, Goransdotter Ericson K, Zheng C, et al. Spectrum and clinical implications of syntaxin 11 gene mutations in familial haemophagocytic lymphohistiocytosis: association with disease-free remissions and haematopoietic malignancies. J Med Genet. 2006;43(4):e14.