Fatal immune dysregulation due to a gain of glycosylation mutation in lymphocyte perforin

Blood

Volumn 119, Issue 7, 2012, Pages 1713-1716

  Chia, Jenny ^a   Thia, Kevin ^a   Brennan, Amelia J ^a,b   Little, Margaret ^c   Williams, Bronwyn ^c   Lopez, Jamie A ^a,b   Trapani, Joseph A ^a,b   Voskoboinik, Ilia ^a,b  

^a PETER MACCALLUM CANCER CENTRE   (Australia)

^b UNIVERSITY OF MELBOURNE   (Australia)

^c ROYAL CHILDREN'S HOSPITAL   (Australia)

Author keywords

[No Author keywords available]

Indexed keywords

MICRORNA; MICRORNA 30; PERFORIN; SHORT HAIRPIN RNA; UNCLASSIFIED DRUG;

ARTICLE; CASE REPORT; CYTOTOXICITY; FATALITY; FEMALE; GENE DELETION; GENE MUTATION; GLYCOSYLATION; HEMOPHAGOCYTIC LYMPHOHISTIOCYTOSIS; HUMAN; IMMUNE DYSREGULATION; INFANT; LYMPHOCYTE; MISSENSE MUTATION; NATURAL KILLER CELL; PRIORITY JOURNAL; PROTEIN FOLDING; PROTEIN GLYCOSYLATION;

EID: 84857491739     PISSN: 00064971     EISSN: 15280020     Source Type: Journal    
DOI: 10.1182/blood-2011-08-374355     Document Type: Article

References (23)

1. Dufourcq-Lagelouse R, Jabado N, Le Deist F, et al. Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity. Am J Hum Genet. 1999;64(1):172-179. (Pubitemid 30428970)
2. 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)
3. 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)
4. 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)
5. 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.
6. Janka GE. Hemophagocytic lymphohistiocytosis. Hematology. 2005;10(suppl 1):104-107. (Pubitemid 41825702)
7. Goransdotter Ericson K, Fadeel B, Nilsson-Ardnor S, et al. Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis. Am J Hum Genet. 2001;68(3):590-597. (Pubitemid 32202754)
8. Molleran Lee S, Villanueva J, Sumegi J, et al. Characterisation of diverse PRF1 mutations leading to decreased natural killer cell activity in North American families with haemophagocytic lymphohistiocytosis. J Med Genet. 2004;41(2):137-144. (Pubitemid 38221753)
9. Voskoboinik I, Smyth MJ, Trapani JA. Perforin-mediated target-cell death and immune homeostasis. Nat Rev Immunol. 2006;6(12):940-952. (Pubitemid 44851736)
10. zur Stadt U, Beutel K, Kolberg S, et al. Mutation spectrum in children with primary hemophagocytic lymphohistiocytosis: molecular and functional analyses of PRF1, UNC13D, STX11, and RAB27A. Hum Mutat. 2006;27(1):62-68. (Pubitemid 43042967)
11. Brennan AJ, Chia J, Trapani JA, Voskoboinik I. Perforin deficiency and susceptibility to cancer. Cell Death Differ. 2010;17(4):607-615.
12. Chia J, Yeo KP, Whisstock JC, Dunstone MA, Trapani JA, Voskoboinik I. Temperature sensitivity of human perforin mutants unmasks subtotal loss of cytotoxicity, delayed FHL, and a predisposition to cancer. Proc Natl Acad Sci U S A. 2009;106(24):9809-9814.
13. Urrea Moreno R, Gil J, Rodriguez-Sainz C, et al. Functional assessment of perforin C2 domain mutations illustrates the critical role for calcium-dependent lipid binding in perforin cytotoxic function. Blood. 2009;113(2):338-346.
14. Trizzino A, zur Stadt U, Ueda I, et al. Genotype-phenotype study of familial haemophagocytic lymphohistiocytosis due to perforin mutations. J Med Genet. 2008;45(1):15-21. (Pubitemid 351158153)
15. Brennan AJ, Chia J, Browne KA, et al. Protection from endogenous perforin: glycans and the C terminus regulate exocytic trafficking in cytotoxic lymphocytes. Immunity. 2011;34(6):879-892.
16. Law RH, Lukoyanova N, Voskoboinik I, et al. The structural basis for membrane binding and pore formation by lymphocyte perforin. Nature. 2010;468(7322):447-451.
17. Clementi R, zur Stadt U, Savoldi G, et al. Six novel mutations in the PRF1 gene in children with haemophagocytic lymphohistiocytosis. J Med Genet. 2001;38(9):643-646. (Pubitemid 32835632)
18. Feldmann J, Le Deist F, Ouachee-Chardin M, et al. Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis. Br J Haematol. 2002;117(4):965-972. (Pubitemid 34639264)
19. Lu G, Xie ZD, Shen KL, et al. Mutations in the perforin gene in children with hemophagocytic lymphohistiocytosis. Chin Med J (Engl). 2009;122(23):2851- 2855.
20. Liu HX, Tong CR, Wang H, et al. [An analysis of etiological and genetic factors of a patient with familial hemophagocytic lymphohistiocytosis]. Zhonghua Nei Ke Za Zhi. 2011;50(2):132-135.
21. Vogt G, Chapgier A, Yang K, et al. Gains of glycosylation comprise an unexpectedly large group of pathogenic mutations. Nat Genet. 2005;37(7):692-700. (Pubitemid 41754885)
22. Vogt G, Vogt B, Chuzhanova N, Julenius K, Cooper DN, Casanova JL. Gain-of-glycosylation mutations. Curr Opin Genet Dev. 2007;17(3):245-251. (Pubitemid 46843552)
23. Dwek RA, Butters TD, Platt FM, Zitzmann N. Targeting glycosylation as a therapeutic approach. Nat Rev Drug Discov. 2002;1(1):65-75. (Pubitemid 37361405)