A V740L mutation in glycoprotein IIb defines a novel epitope (War) associated with fetomaternal alloimmune thrombocytopenia

Transfusion

Volumn 53, Issue 9, 2013, Pages 1965-1973

  Poles, Anthony ^a   Woźniak, Marcin J ^a   Walser, Piers ^a   Ridgwell, Kay ^a   Fitzgerald, Joan ^a   Green, Ann ^a   Gilmore, Ruth ^a   Lucas, Geoff ^a  

^a NHS BLOOD AND TRANSPLANT   (United Kingdom)

Author keywords

[No Author keywords available]

Indexed keywords

EPITOPE; GLYCOPROTEIN IIIA; IMMUNOGLOBULIN; MATERNAL ANTIBODY; MONOCLONAL ANTIBODY;

ADULT; ARTICLE; CASE REPORT; DNA DETERMINATION; DNA SEQUENCE; EXON; FEMALE; GENE; GENE MUTATION; GENETIC ANALYSIS; GLYCOPROTEIN IIB GENE; HUMAN; IMMUNOASSAY; ITGA2B GENE; ITGB3 GENE; MATERNAL SERUM; NEONATAL ALLOIMMUNE THROMBOCYTOPENIA; POLYMERASE CHAIN REACTION; PROPHYLAXIS; SEROLOGY; SINGLE NUCLEOTIDE POLYMORPHISM; THROMBOCYTE TRANSFUSION; THROMBOCYTOPENIA;

ADULT; ANTIGENS, CD36; ANTIGENS, HUMAN PLATELET; EPITOPES; EXONS; FEMALE; FLOW CYTOMETRY; HUMANS; INTEGRIN ALPHA2; INTEGRIN BETA3; MOLECULAR DYNAMICS SIMULATION; MUTATION; POLYMORPHISM, SINGLE NUCLEOTIDE; PREGNANCY; THROMBOCYTOPENIA, NEONATAL ALLOIMMUNE;

EID: 84883855938     PISSN: 00411132     EISSN: 15372995     Source Type: Journal    
DOI: 10.1111/trf.12067     Document Type: Article

References (32)

1. a) as determined by antenatal screening. Blood 1998; 92: 2280-2287.
2. Kaplan C,. Foetal and neonatal alloimmune thrombocytopaenia. Orphanet J Rare Dis 2006; 1: 39.
3. Turner ML, Bessos H, Fagge T, Harkness M, Rentoul F, Seymour J, Wilson D, Gray I, Ridheesh A, Cairns J, Urbaniak S,. Prospective epidemiologic study of the outcome and cost-effectiveness of antenatal screening to detect neonatal alloimmune thrombocytopenia due to anti-HPA-1a. Transfusion 2005; 45: 1945-1956.
4. Metcalfe P, Watkins NA, Ouwehand WH, Kaplan C, Newman P, Kekomaki R, De Haas M, Aster R, Shibata Y, Smith J, Kiefel V, Santoso S,. Nomenclature of human platelet antigens. Vox Sang 2003; 85: 240-245.
5. Peterson JA, Pechauer SM, Gitter ML, Kanack A, Curtis BR, Reese J, Kamath VM, McFarlan JG, Aster RH,. New platelet glycoprotein polymorphisms causing maternal immunization and neonatal alloimmune thrombocytopenia. Transfusion 2012; 52: 1117-1124.
6. a alloantigen in neonatal alloimmune thrombocytopenia. Blood 2002; 99: 1205-1214.
7. Knight M, Mathias M, Allen D, Kurinczuk JJ, Spark P, Roberts DJ, Murphy MF,. The incidence and outcomes of fetomaternal alloimmune thrombocytopenia: a UK national study using three data sources. Br J Haematol 2011; 152: 460-468.
8. Lucas GF, Pittman SJ, Davies S, Solanki T, Bruggemann K,. Post-transfusion purpura (PTP) associated with anti-HPA-1a, anti-HPA-2b and anti-HPA-3a antibodies. Transfus Med 1997; 7: 295-299.
9. Kiefel V, Konig C, Kroll H, Santoso S,. Platelet alloantibodies in transfused patients. Transfusion 2001; 41: 766-770.
10. Lucas G, Culliford S, Green F, Sidra G, Calvert A, Green A, Harrison P, Harvey J, Allen D, Smillie D, Masurekar A, Marks D, Russell N, Massey E,. Recipient-derived HPA-1a antibodies: a cause of prolonged thrombocytopenia after unrelated donor stem cell transplantation. Transfusion 2010; 50: 334-339.
11. Peterson DM, Stathopoulous NA, Giogio TD, Hellums JD, Moake JL,. Shear-induced platelet aggregation requires von Willebrand factor and platelet membrane glycoproteins Ib and IIb-IIIa. Blood 1987; 69: 625-628.
12. Zhu JF, Luo BH, Xiao T, Zhang C, Nishida N, Springer TA,. Structure of a complete integrin ectodomain in a physiologic resting state and activation and deactivation by applied forces. Mol Cell 2008; 32: 849-861.
13. Nurden AT, Fiore M, Nurden P, Pollois X,. Glanzmann thrombasthenia: a review of ITGA2B and ITGB3 defects with emphasis on variants, phenotypic variability, and mouse models. Blood 2011; 118: 5996-6005.
14. Ghevaert C, Salsmann A, Watkins NA, Schaffner-Reckinger E, Rankin A, Garner SF, Stephens J, Smith GA, Debili N, Vainchenker W, de Groot PG, Huntington JA, Laffan M, Kieffer N, Ouwehand WH,. A nonsynonymous SNP in the ITGB3 gene disrupts the conserved membrane-proximal cytoplasmic salt bridge in the αIIbß3 integrin and cosegregates dominantly with abnormal proplatelet formation and macrothrombocytopenia. Blood 2008; 111: 3407-3414.
15. b alloantigen system. Blood 1990; 75: 2343-2348.
16. a, a new low-frequency platelet-specific antigen localized on glycoprotein IIb, is associated with neonatal alloimmune thrombocytopenia. Blood 1995; 86: 1019-1026.
17. Peterson JA, Gitter ML, Kanack A, Curtis B, McFarland J, Bougie D, Aster R,. New low-frequency platelet glycoprotein polymorphisms associated with neonatal alloimmune thrombocytopenia. Transfusion 2010; 50: 324-333.
18. Jallu V, Dusseaux M, Kaplan C,. A new Ser472Asn (Cab2(a+)) polymorphism localized within the alphaIIb "thigh" domain is involved in neonatal thrombocytopenia. Transfusion 2011; 51: 393-400.
19. a+) polymorphism results in a new human platelet alloantigen involved in neonatal alloimmune thrombocytopenia. Transfusion 2013; 53: 554-563.
20. Kaplan C,. The role of the low-frequency antigens in neonatal alloimmune thrombocytopenia. ISBT Sci Ser 2007; 2: 106-110.
21. von dem Borne AE, Verheugt FW, Oosterhof F, von Riesz E, de la Rivière AB, Engelfriet CP,. A simple immunofluorescence test for the detection of platelet antibodies. Br J Haematol 1978; 39: 195-207.
22. Kiefel V, Santoso S, Weisheit M, Mueller-Eckhardt C,. Monoclonal antibody-specific immobilization of platelet antigens (MAIPA): a new tool for the identification of platelet-reactive antibodies. Blood 1987; 70: 1722-1726.
23. Campbell K, Rishi K, Howkins G, Gilby D, Mushens R, Ghavaert C, Metcalfe P, Ouwehand WH, Lucas G,. A modified rapid monoclonal antibody-specific immobilization of platelet antigen assay for the detection of human platelet antigen (HPA) antibodies: a multicentre evaluation. Vox Sang 2007; 93: 289-297.
24. Cavanagh G, Dunn AN, Chapman CE, Metcalfe P,. HPA genotyping by PCR sequence-specific priming (PCR-SSP): a streamlined method for rapid routine investigations. Transfus Med 1997; 7: 41-45.
25. a (HPA-17bw) involved in fetal maternal alloimmune thrombocytopenia. Transfusion 2008; 48: 1432-1438.
26. Harvey M, Giupponi G, De Fabritiis G,. ACEMD: accelerated molecular dynamics simulations in the microseconds timescale. J Chem Theory Comput 2009; 5: 1632-1639.
27. Jorgensen WL, Chandrasekhar J, Madura JD, Impey RW, Klein ML,. Comparison of simple potential functions for simulating liquid water. J Chem Phys 1983; 79: 926-935.
28. Humphrey W, Dalke W, Schulten K,. VMD: visual molecular dynamics. J Mol Graph 1996; 14: 33-38.
29. Bodary SC, Napier MA, McLean JW,. Expression of recombinant platelet glycoprotein IIbIIIa results in a functional fibrinogen-binding complex. J Biol Chem 1989; 264: 18859-18862.
30. Ghevaert C, Rankin A, Huiskes E, Porcelijn L, Javela K, Kekomaki R, Bakchoul T, Santoso S, Nutland S, Smyth DJ, Smith GA, McBride S, Watkins NA,. Alloantibodies against low-frequency human platelet antigens do not account for a significant proportion of cases of fetomaternal alloimmune thrombocytopenia: evidence from 1054 cases. Transfusion 2009; 49: 2084-2089.
31. Socher I, Andrei-Selmer C, Bein G, Kroll H, Santoso S,. Low-avidity HPA-1a alloantibodies in severe neonatal alloimmune thrombocytopenia are detectable with surface plasmon resonance technology. Transfusion 2009; 49: 943-952.
32. a) fetomaternal alloimmunization, a clinically severe neonatal thrombocytopenia: difficulties in diagnosis and therapy and report on eight families. Transfusion 2005; 45: 1799-1803.