Genetic determinants of immunogenicity to factor IX during the treatment of haemophilia B

Haemophilia

Volumn 21, Issue 2, 2015, Pages 210-218

  Saini, S ^a,b   Hamasaki Katagiri, N ^a   Pandey, G S ^a   Yanover, C ^c   Guelcher, C ^b   Simhadri, V L ^a   Dandekar, S ^d   Guerrera, M F ^b,e   Kimchi Sarfaty, C ^a   Sauna, Z E ^a  

^a CENTER FOR DRUG EVALUATION AND RESEARCH   (United States)

^b CHILDREN'S NATIONAL MEDICAL CENTER   (United States)

^c IBM HAIFA RESEARCH LAB   (Israel)

^d UNIVERSITY OF CALIFORNIA   (United States)

^e GEORGE WASHINGTON UNIVERSITY SCHOOL OF MEDICINE AND HEALTH SCIENCES   (United States)

Author keywords

F9 gene; Factor IX; Haemophilia B; Immunogenicity; Inhibitor antibodies

Indexed keywords

BLOOD CLOTTING FACTOR 9; GENOMIC DNA; HLA DRB1 ANTIGEN; NEUTRALIZING ANTIBODY; RECOMBINANT BLOOD CLOTTING FACTOR 9; ALLOANTIBODY; GENETIC MARKER;

ALLELE; ARTICLE; CLINICAL ARTICLE; DISEASE SEVERITY; GENE DELETION; GENE MUTATION; GENE SEQUENCE; GENETIC MARKER; GENOTYPE; HEMOPHILIA B; HLA TYPING; HUMAN; IMMUNE RESPONSE; IMMUNOGENICITY; IMMUNOLOGICAL TOLERANCE; MALE; MISSENSE MUTATION; NONSENSE MUTATION; PRIORITY JOURNAL; RISK FACTOR; SIBLING; ADOLESCENT; BIOLOGY; CHILD; EXON; FACTUAL DATABASE; GENETIC ASSOCIATION; GENETICS; IMMUNOLOGY; MUTATION; RISK; RNA SPLICING; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

ADOLESCENT; CHILD; COMPUTATIONAL BIOLOGY; DATABASES, FACTUAL; EXONS; FACTOR IX; GENETIC ASSOCIATION STUDIES; GENETIC MARKERS; HEMOPHILIA B; HLA-DRB1 CHAINS; HUMANS; ISOANTIBODIES; MALE; MUTATION; ODDS RATIO; RNA SPLICING; SEVERITY OF ILLNESS INDEX; YOUNG ADULT;

EID: 84923101508     PISSN: 13518216     EISSN: 13652516     Source Type: Journal    
DOI: 10.1111/hae.12553     Document Type: Article

References (43)

1. Bolton-Maggs PH, Pasi KJ. Haemophilias A and B. Lancet 2003; 361: 1801-9.
2. Hamasaki-Katagiri N, Salari R, Wu A et al. A gene-specific method for predicting hemophilia-causing point mutations. J Mol Biol 2013; 425: 4023-33.
3. Franchini M, Frattini F, Crestani S, Bonfanti C. Haemophilia B: current pharmacotherapy and future directions. Expert Opin Pharmacother 2012; 13: 2053-63.
4. Pipe SW. Hemophilia: new protein therapeutics. Hematology Am Soc Hematol Educ Program 2010; 2010; 203-9.
5. Chitlur M, Warrier I, Rajpurkar M, Lusher JM. Inhibitors in factor IX deficiency a report of the ISTH-SSC international FIX inhibitor registry (1997-2006). Haemophilia 2009; 15: 1027-31.
6. Puetz J, Soucie JM, Kempton CL, Monahan PE. Prevalent inhibitors in haemophilia B subjects enrolled in the Universal Data Collection database. Haemophilia 2014; 20: 25-31.
7. Ljung R, Petrini P, Tengborn L, Sjorin E. Haemophilia B mutations in Sweden: a population-based study of mutational heterogeneity. Br J Haematol 2001; 113: 81-6.
8. UK Haemophilia Centre Doctors' Organisation. The incidence of factor VIII and factor IX inhibitors in the hemophilia population of the UK and their effect on subsequent mortality, 1977-99. J Thromb Haemost 2004; 2: 1047-54.
9. Ewenstein BM, Takemoto C, Warrier I et al. Nephrotic syndrome as a complication of immune tolerance in hemophilia B. Blood 1997; 89: 1115-16.
10. Ter Avest PC, Fischer K, Mancuso ME et al. Risk stratification for inhibitor development at first treatment for severe hemophilia A: a tool for clinical practice. J Thromb Haemost 2008; 6: 2048-54.
11. Gouw SC, van den Berg HM. The multifactorial etiology of inhibitor development in hemophilia: genetics and environment. Semin Thromb Hemost 2009; 35: 723-34.
12. Gouw SC, van der Bom JG, Ljung R et al. Factor VIII products and inhibitor development in severe hemophilia A. N Engl J Med 2013; 368: 231-9.
13. Gouw SC, van den Berg HM, le CS, der van Bom JG. Treatment characteristics and the risk of inhibitor development: a multicenter cohort study among previously untreated patients with severe hemophilia A. J Thromb Haemost 2007; 5: 1383-90.
14. Gouw SC, van den Berg HM, Fischer K et al. Intensity of factor VIII treatment and inhibitor development in children with severe hemophilia A: the RODIN study. Blood 2013; 121: 4046-55.
15. Wieland I, Wermes C, Eifrig B et al. Inhibitor-immunology-study. Evaluation of inhibitor development in haemophilia B. Hamostaseologie 2011; 31(Suppl 1): S57-60.
16. Wieland I, Wermes C, Eifrig B et al. Inhibitor-Immunology-Study. Different HLA-types seem to be involved in the inhibitor development in haemophilia A. Hamostaseologie 2008; 28(Suppl 1): S26-8.
17. Gouw SC, van den Berg HM, Oldenburg J et al. F8 gene mutation type and inhibitor development in patients with severe hemophilia A: systematic review and meta-analysis. Blood 2012; 119: 2922-34.
18. Miller CH, Benson J, Ellingsen D et al. F8 and F9 mutations in US haemophilia patients: correlation with history of inhibitor and race/ethnicity. Haemophilia 2012; 18: 375-82.
19. Astermark J, Oldenburg J, Carlson J et al. Polymorphisms in the TNFA gene and the risk of inhibitor development in patients with hemophilia A. Blood 2006; 108: 3739-45.
20. Astermark J, Oldenburg J, Pavlova A, Berntorp E, Lefvert AK. Polymorphisms in the IL10 but not in the IL1beta and IL4 genes are associated with inhibitor development in patients with hemophilia A. Blood 2006; 107: 3167-72.
21. Astermark J, Berntorp E, White GC, Kroner BL. The Malmo International Brother Study (MIBS): further support for genetic predisposition to inhibitor development in hemophilia patients. Haemophilia 2001; 7: 267-72.
22. Pavlova A, Delev D, Lacroix-Desmazes S et al. Impact of polymorphisms of the major histocompatibility complex class II, interleukin-10, tumor necrosis factor-alpha and cytotoxic T-lymphocyte antigen-4 genes on inhibitor development in severe hemophilia A. J Thromb Haemost 2009; 7: 2006-15.
23. Stonebraker JS, Bolton-Maggs PH, Michael SJ, Walker I, Brooker M. A study of variations in the reported haemophilia B prevalence around the world. Haemophilia 2012; 18: e91-4.
24. Lusher JM, Arkin S, Abildgaard CF, Schwartz RS. Recombinant factor VIII for the treatment of previously untreated patients with hemophilia A. Safety, efficacy, and development of inhibitors. Kogenate Previously Untreated Patient Study Group. N Engl J Med 1993; 328: 453-9.
25. Payne AB, Miller CH, Kelly FM, Michael SJ, Craig HW. The CDC Hemophilia A Mutation Project (CHAMP) mutation list: a new online resource. Hum Mutat 2013; 34: E2382-91.
26. Li T, Miller CH, Payne AB, Craig HW. The CDC Hemophilia B mutation project mutation list: a new online resource. Mol Genet Genomic Med 2013; 1: 238-45.
27. Pandey GS, Yanover C, Howard TE, Sauna ZE. Polymorphisms in the F8 gene and MHC-II variants as risk factors for the development of inhibitory anti-factor VIII antibodies during the treatment of hemophilia a: a computational assessment. PLoS Comput Biol 2013; 9: e1003066.
28. Pandey GS, Yanover C, Miller-Jenkins LM et al. Endogenous factor VIII synthesis from the intron 22-inverted F8 locus may modulate the immunogenicity of replacement therapy for hemophilia A. Nat Med 2013; 19: 1318-24.
29. Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C. Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acids Res 2009; 37: e67.
30. Wang M, Marin A. Characterization and prediction of alternative splice sites. Gene 2006; 366: 219-27.
31. Akerman M, David-Eden H, Pinter RY, Mandel-Gutfreund Y. A computational approach for genome-wide mapping of splicing factor binding sites. Genome Biol 2009; 10: R30.
32. Paz I, Akerman M, Dror I, Kosti I, Mandel-Gutfreund Y. SFmap: a web server for motif analysis and prediction of splicing factor binding sites. Nucleic Acids Res 2010; 38(Web Server issue): W281-5.
33. Karosiene E, Rasmussen M, Blicher T, Lund O, Buus S, Nielsen M. NetMHCIIpan-3.0, a common pan-specific MHC class II prediction method including all three human MHC class II isotypes, HLA-DR, HLA-DP and HLA-DQ. Immunogenetics 2013; 65: 711-24.
34. Hart DP. Computational modelling and inhibitor risk: predicting the future? Haemophilia 2014; 20: 155-7.
35. Rallapalli PM, Kemball-Cook G, Tuddenham EG, Gomez K, Perkins SJ. An interactive mutation database for human coagulation factor IX provides novel insights into the phenotypes and genetics of hemophilia B. J Thromb Haemost 2013; 11: 1329-40.
36. Belvini D, Salviato R, Radossi P et al. Molecular genotyping of the Italian cohort of patients with hemophilia B. Haematologica 2005; 90: 635-42.
37. Radic CP, Rossetti LC, Abelleyro MM et al. Assessment of the F9 genotype-specific FIX inhibitor risks and characterisation of 10 novel severe F9 defects in the first molecular series of Argentinian patients with haemophilia B. Thromb Haemost 2013; 109: 24-33.
38. McGinniss MJ, Kazazian HH Jr, Hoyer LW, Bi L, Inaba H, Antonarakis SE. Spectrum of mutations in CRM-positive and CRM-reduced hemophilia A. Genomics 1993; 15: 392-8.
39. Amano K, Sarkar R, Pemberton S, Kemball-Cook G, Kazazian HH Jr, Kaufman RJ. The molecular basis for cross-reacting material-positive hemophilia A due to missense mutations within the A2-domain of factor VIII. Blood 1998; 91: 538-48.
40. Paul S, Weiskopf D, Angelo MA, Sidney J, Peters B, Sette A. HLA class I alleles are associated with peptide-binding repertoires of different size, affinity, and immunogenicity. J Immunol 2013; 191: 5831-9.
41. Erup Larsen M, Kloverpris H, Stryhn A et al. HLArestrictor-a tool for patient-specific predictions of HLA restriction elements and optimal epitopes within peptides. Immunogenetics 2011; 63:43-55.
42. Reipert BM, van Helden PM, Schwarz HP, Hausl C. Mechanisms of action of immune tolerance induction against factor VIII in patients with congenital haemophilia A and factor VIII inhibitors. Br J Haematol 2007; 136: 12-25.
43. DiMichele DM, Kroner BL. The North American Immune Tolerance Registry: practices, outcomes, outcome predictors. Thromb Haemost 2002; 87: 52-7.