The KIR2DS2/DL2 genotype is associated with adult persistent/chronic and relapsed immune thrombocytopenia independently of FCGR3a-158 polymorphisms

Blood Coagulation and Fibrinolysis

Volumn 23, Issue 1, 2012, Pages 45-50

  Nourse, Jamie P ^a   Lea, Rod ^b   Crooks, Pauline ^a   Wright, Gillian ^a   Tran, Huyen ^c   Catalano, John ^d   Brighton, Tim ^e   Grigg, Andrew ^f   Marlton, Paula ^g,h   Gandhi, Maher K ^a,g,h  

^a QIMR BERGHOFER MEDICAL RESEARCH INSTITUTE   (Australia)

^b GRIFFITH UNIVERSITY   (Australia)

^c MONASH MEDICAL CENTRE   (Australia)

^d Peninsula Private Hospital   (Australia)

^e PRINCE OF WALES HOSPITAL   (Australia)

^f AUSTIN HOSPITAL   (Australia)

^g PRINCESS ALEXANDRA HOSPITAL   (Australia)

^h UNIVERSITY OF QUEENSLAND   (Australia)

Author keywords

FC gamma receptor; immune thrombocytopenia; killer cell immunoglobulin like receptors

Indexed keywords

DNA; KILLER CELL IMMUNOGLOBULIN LIKE RECEPTOR 2DL2;

ADULT; AGE; AGED; ALLELE; ARTICLE; AUTOIMMUNE THROMBOCYTOPENIA; BINDING AFFINITY; CONTROLLED STUDY; DNA POLYMORPHISM; ETHNICITY; EUROPEAN AMERICAN; FEMALE; GENE; GENE FREQUENCY; GENETIC ASSOCIATION; GENETIC SUSCEPTIBILITY; GENOTYPE; HETEROZYGOTE; HUMAN; MAJOR CLINICAL STUDY; MALE; PRIORITY JOURNAL; PROSPECTIVE STUDY; SEX;

ADOLESCENT; ADULT; AGED; AGED, 80 AND OVER; ALLELES; CHRONIC DISEASE; FEMALE; GENOTYPE; HUMANS; MALE; MIDDLE AGED; POLYMORPHISM, GENETIC; PROSPECTIVE STUDIES; PURPURA, THROMBOCYTOPENIC, IDIOPATHIC; RECEPTORS, IGG; RECEPTORS, KIR; RECEPTORS, KIR2DL2; RECURRENCE; YOUNG ADULT;

EID: 84855203741     PISSN: 09575235     EISSN: 14735733     Source Type: Journal    
DOI: 10.1097/MBC.0b013e32834d7ce3     Document Type: Article

References (35)

1. George JN, Woolf SH, Raskob GE, Wasser JS, Aledort LM, Ballem PJ, et al. Idiopathic thrombocytopenic purpura: A practice guideline developed by explicit methods for the American Society of Hematology. Blood 1996; 88:3-40. (Pubitemid 26230668)
2. Crow AR, Lazarus AH. Role of Fcgamma receptors in the pathogenesis and treatment of idiopathic thrombocytopenic purpura. J Pediatr Hematol Oncol 2003; 25 (Suppl 1):S14-S18. (Pubitemid 37517912)
3. Campbell KS, Purdy AK. Structure/function of human killer cell immunoglobulin-like receptors: Lessons from polymorphisms, evolution, crystal structures and mutations. Immunology 2011; 132:315-325.
4. Wilson MJ, Torkar M, Haude A, Milne S, Jones T, Sheer D, et al. Plasticity in the organization and sequences of human KIR/ILT gene families. Proc Natl Acad Sci U S A 2000; 97:4778-4783. (Pubitemid 30238634)
5. Boyington JC, Brooks AG, Sun PD. Structure of killer cell immunoglobulinlike receptors and their recognition of the class I MHC molecules. Immunol Rev 2001; 181:66-78. (Pubitemid 32703396)
6. Martin MP, Nelson G, Lee JH, Pellett F, Gao X, Wade J, et al. Cutting edge: Susceptibility to psoriatic arthritis: Influence of activating killer Ig-like receptor genes in the absence of specific HLA-C alleles. J Immunol 2002; 169:2818-2822. (Pubitemid 35013118)
7. van der Slik AR, Koeleman BP, Verduijn W, Bruining GJ, Roep BO, Giphart MJ. KIR in type 1 diabetes: Disparate distribution of activating and inhibitory natural killer cell receptors in patients versus HLA-matched control subjects. Diabetes 2003; 52:2639-2642. (Pubitemid 37210556)
8. Stern M, Opelz G, Dohler B, Hess C. Natural killer-cell receptor polymorphisms and posttransplantation non-Hodgkin lymphoma. Blood 2010; 115:3960-3965.
9. Olsson B, Andersson PO, Jernas M, Jacobsson S, Carlsson B, Carlsson LM, et al. T-cell-mediated cytotoxicity toward platelets in chronic idiopathic thrombocytopenic purpura. Nat Med 2003; 9:1123-1124. (Pubitemid 37173694)
10. Sondermann P, Huber R, Oosthuizen V, Jacob U. The 3.2-A crystal structure of the human IgG1 Fc fragment-Fc gammaRIII complex. Nature 2000; 406:267-273. (Pubitemid 30604397)
11. Koene HR, Kleijer M, Algra J, Roos D, von dem Borne AE, de Haas M. Fc gammaRIIIa-158 V/F polymorphisminfluences the binding of IgG by natural killer cell Fc gammaRIIIa, independently of the Fc gammaRIIIa-48L/R/H phenotype. Blood 1997; 90:1109-1114. (Pubitemid 27314146)
12. Hatjiharissi E, Xu L, Santos DD, Hunter ZR, Ciccarelli BT, Verselis S, et al. Increased natural killer cell expression of CD16, augmented binding and ADCC activity to rituximab among individuals expressing the Fc{gamma}RIIIa-158 V/V and V/F polymorphism. Blood 2007; 110:2561-2564. (Pubitemid 47523179)
13. Fijen CA, Bredius RG, Kuijper EJ, Out TA, De Haas M, De Wit AP, et al. The role of Fcgamma receptor polymorphisms and C3 in the immune defence against Neisseria meningitidis in complement-deficient individuals. Clin Exp Immunol 2000; 120:338-345. (Pubitemid 30304231)
14. Stasi R. Immune thrombocytopenic purpura: The treatment paradigm. Eur J Haematol 2009; 82 (Suppl. 71):13-19.
15. Rodeghiero F, Stasi R, Gernsheimer T, Michel M, Provan D, Arnold DM, et al. Standardization of terminology, definitions and outcome criteria in immune thrombocytopenic purpura of adults and children: Report from an international working group. Blood 2009; 113:2386-2393.
16. Keen-Kim D, Mathews CA, Reus VI, Lowe TL, Herrera LD, Budman CL, et al. Overrepresentation of rare variants in a specific ethnic group may confuse interpretation of association analyses. Hum Mol Genet 2006; 15:3324-3328. (Pubitemid 44649118)
17. Dall'Ozzo S, Andres C, Bardos P, Watier H, Thibault G. Rapid single-step FCGR3A genotyping based on SYBR Green I fluorescence in real-time multiplex allele-specific PCR. J Immunol Methods 2003; 277:185-192. (Pubitemid 36694384)
18. Vilches C, Castano J, Gomez-Lozano N, Estefania E. Facilitation of KIR genotyping by a PCR-SSP method that amplifies short DNA fragments. Tissue Antigens 2007; 70:415-422. (Pubitemid 47537402)
19. Carcao MD, Blanchette VS, Wakefield CD, Stephens D, Ellis J, Matheson K, et al. Fcgamma receptor IIa and IIIa polymorphisms in childhood immune thrombocytopenic purpura. Br J Haematol 2003; 120:135-141. (Pubitemid 36056921)
20. Maxwell LD, Ross OA, Curran MD, Rea IM, Middleton D. Investigation of KIR diversity in immunosenescence and longevity within the Irish population. Exp Gerontol 2004; 39:1223-1232. (Pubitemid 39024371)
21. Bergmann AK, Grace RF, Neufeld EJ. Genetic studies in pediatric ITP: Outlook, feasibility, and requirements. Ann Hematol 2010; 89:S95-S103.
22. Cines DB, Bussel JB, Liebman HA, Luning Prak ET. The ITP syndrome: Pathogenic and clinical diversity. Blood 2009; 113: 6511-6521.
23. Semple JW. Infections, antigen-presenting cells, T cells, and immune tolerance: Their role in the pathogenesis of immune thrombocytopenia. Hematol Oncol Clin North Am 2009; 23:1177-1192.
24. Cooper N, Bussel J. The pathogenesis of immune thrombocytopaenic purpura. Br J Haematol 2006; 133:364-374.
25. Toltl LJ, Arnold DM. Pathophysiology and management of chronic immune thrombocytopenia: Focusing on what matters. Br J Haematol 2011; 152:52-60.
26. Uhrberg M, Valiante NM, Shum BP, Shilling HG, Lienert-Weidenbach K, Corliss B, et al. Human diversity in killer cell inhibitory receptor genes. Immunity 1997; 7:753-763. (Pubitemid 28064889)
27. Borgerding A, Hasenkamp J, Engelke M, Burkhart N, Trumper L, Wienands J, et al. B-lymphoma cells escape rituximab-triggered elimination by NK cells through increased HLA class I expression. Exp Hematol 2010; 38:213-221.
28. Breunis WB, van Mirre E, Bruin M, Geissler J, de Boer M, Peters M, et al. Copy number variation of the activating FCGR2C gene predisposes to idiopathic thrombocytopenic purpura. Blood 2008; 111:1029-1038. (Pubitemid 351213380)
29. Foster CB, Zhu S, Erichsen HC, Lehrnbecher T, Hart ES, Choi E, et al. Polymorphisms in inflammatory cytokines and Fcgamma receptors in childhood chronic immune thrombocytopenic purpura: A pilot study. Br J Haematol 2001; 113:596-599. (Pubitemid 32524376)
30. Fujimoto TT, Inoue M, Shimomura T, Fujimura K. Involvement of Fc gamma receptor polymorphism in the therapeutic response of idiopathic thrombocytopenic purpura. Br J Haematol 2001; 115:125-130. (Pubitemid 32995105)
31. Cartron G, Dacheux L, Salles G, Solal-Celigny P, Bardos P, Colombat P, et al. Therapeutic activity of humanized anti-CD20 monoclonal antibody and polymorphism in IgG Fc receptor FcgammaRIIIa gene. Blood 2002; 99:754-758. (Pubitemid 34525533)
32. Wang SY, Racila E, Taylor RP, Weiner GJ. NK-cell activation and antibodydependent cellular cytotoxicity induced by rituximab-coated target cells is inhibited by the C3b component of complement. Blood 2008; 111:1456-1463. (Pubitemid 351213433)
33. Zaja F, Baccarani M, Mazza P, Bocchia M, Gugliotta L, Zaccaria A, et al. Dexamethasone plus rituximab yields higher sustained response rates than dexamethasone monotherapy in adults with primary immune thrombocytopenia. Blood 2010; 115:2755-2762.
34. Godeau B, Porcher R, Fain O, Lefrere F, Fenaux P, Cheze S, et al. Rituximab efficacy and safety in adult splenectomy candidates with chronic immune thrombocytopenic purpura: Results of a prospective multicenter phase 2 study. Blood 2008; 112:999-1004.
35. Palau J, Jarque I, Sanz MA. Long-term management of chronic immune thrombocytopenic purpura in adults. Int J Gen Med 2010; 3:305-311.