Familial lupus and antiphospholipid syndrome

Lupus

Volumn 16, Issue 8, 2007, Pages 556-563

  Sestak, A L ^a   O'Neil, Kathleen M ^b  

^a OKLAHOMA MEDICAL RESEARCH FOUNDATION   (United States)

^b UNIVERSITY OF OKLAHOMA COLLEGE OF MEDICINE   (United States)

Author keywords

Antiphospholipid syndrome; Autoimmune diseases; Genetics; HLA; Systemic lupus erythematosus

Indexed keywords

ANTIPHOSPHOLIPID SYNDROME; AUTOIMMUNE THYROIDITIS; AUTOIMMUNITY; FAMILIAL DISEASE; GENETIC ANALYSIS; HUMAN; PRIORITY JOURNAL; REVIEW; SYSTEMIC LUPUS ERYTHEMATOSUS; THROMBOPHILIA;

ANTIPHOSPHOLIPID SYNDROME; HLA-DQ ANTIGENS; HLA-DR ANTIGENS; HUMANS; LUPUS ERYTHEMATOSUS, SYSTEMIC;

EID: 34548443759     PISSN: 09612033     EISSN: None     Source Type: Journal    
DOI: 10.1177/0961203307078071     Document Type: Review

References (87)

1. Marlow AA, Peabody HD, Jr., Nickel WR. Familial occurrence of systemic lupus erythematosus. JAMA 1960; 173: 1641-1643.
2. Sestak AL, Shaver TS, Moser KL et al. Familial aggregation of lupus and autoimmunity in an unusual multiplex pedigree. J Rheumatol 1999; 26(7): 1495-1499.
3. Tsao BP, Grossman JM, Riemekasten G et al. Familiality and co-occurrence of clinical features of systemic lupus erythematosus. Arthritis Rheum 2002; 46(10): 2678-2685.
4. Priori R, Medda E, Conti F et al. Familial autoimmunity as a risk factor for systemic lupus erythematosus and vice versa: a case-control study. Lupus 2003; 12(10): 735-740.
5. Alarcon-Segovia D, Alarcon-Riquelme ME, Cardiel MH et al. Familial aggregation of systemic lupus erythematosus, rheumatoid arthritis, and other autoimmune diseases in 1,177 lupus patients from the GLADEL cohort. Arthritis Rheum 2005; 52(4): 1138-1147.
6. Begovich AB, Carlton VE, Honigberg LA et al. A missense single-nucleotide polymorphism in a gene encoding a protein tyrosine phosphatase (PTPN22) is associated with rheumatoid arthritis. Am J Hum Genet 2004; 75(2): 330-337.
7. Corporaal S, Bijl M, Kallenberg CG. Familial occurrence of autoimmune diseases and autoantibodies in a Caucasian population of patients with systemic lupus erythematosus. Clin Rheumatol 2002; 21(2): 108-113.
8. Block SR, Winfield JB, Lockshin MD et al. Studies of twins with systemic lupus erythematosus. A review of the literature and presentation of 12 additional sets. Am J Med 1975; 59(4): 533-552.
9. Block SR. A brief history of twins. Lupus 2006; 15(2): 61-64.
10. Moser KL, Neas BR, Salmon JE et al. Genome scan of human systemic lupus erythematosus: evidence for linkage on chromosome 1q in African-American pedigrees. Proc Natl Acad Sci USA 1998; 95(25): 14869-14874.
11. Gaffney PM, Kearns GM, Shark KB et al. A genome-wide search for susceptibility genes in human systemic lupus erythematosus sib-pair families. Proc Natl Acad Sci USA 1998; 95(25): 14875-14879.
12. Shai R, Quismorio FJ, Li L et al. Genome-wide screen for systemic lupus erythematosus susceptibility genes in multiplex families. Hum Mol Genet 1999; 8(4): 639-644.
13. Lindqvist AK, Steinsson K, Johanneson B et al. A susceptibility locus for human systemic lupus erythematosus (hSLE1) on chromosome 2q. J Autoimmun 2000; 14(2): 169-178.
14. Harley J, Kelly J. Genetic basis of systemic lupus erythematosus: a review of the unique genetic contributions in African Americans. J Nat Med Assoc 2002; 94(8): 670-677.
15. Michel M, Johanet C, Meyer O et al. Familial lupus erythematosus. Clinical and immunologic features of 125 multiplex families. Medicine (Baltimore) 2001; 80(3): 153-158.
16. Koskenmies S, Widen E, Kere J et al. Familial systemic lupus erythematosus in Finland. J Rheumatol 2001; 28(4): 758-760.
17. Gourley IS, Cunnane G, Bresnihan B et al. A clinical and serological comparison of familial and non-familial systemic lupus erythematosus in Ireland. Lupus 1996; 5(4): 288-293.
18. Quintero-Del-Rio A, Bacino D, Kelly J et al. Familial systemic lupus erythematosus: a comparison of clinical manifestations and antibody presentation in three ethnic groups. Cell Mol Biol 2001; 47(7): 1223-1227.
19. Bottini N, Musumeci L, Alonso A et al. A functional variant of lymphoid tyrosine phosphatase is associated with type I diabetes. Nat Genet 2004; 36(4): 337-338.
20. Kyogoku C, Langefeld CD, Ortmann WA et al. Genetic association of the R620W polymorphism of protein tyrosine phosphatase PTPN22 with human SLE. Am J Hum Genet 2004; 75(3): 504-507.
21. Velaga MR, Wilson V, Jennings CE et al. The codon 620 tryptophan allele of the lymphoid tyrosine phosphatase (LYP) gene is a major determinant of Graves' disease. J Clin Endocrinol Metab 2004; 89(11): 5862-5865.
22. Atagunduz P, Appel H. Kuon W et al. HLA-B27-restricted CD8+ T cell response to cartilage-derived self peptides in ankylosing spondylitis. Arthritis Rheum 2005; 52(3): 892-901.
23. Kaufman KM, Kelly JA, Herring BJ et al. Evaluation of the genetic association of the PTPN22 R620W polymorphism in familial and sporadic systemic lupus erythematosus. Arthritis Rheum 2006; 54(8): 2533-2540.
24. Sullivan KE, Winkelstein JA. Genetically determined deficiencies of the complement system. In Ochs HD, Smith C, Puck J eds. Primary immunodeficiency diseases: a molecular and genetic approach. New York, NY: Oxford University Press 1999: 397-416.
25. Sullivan KE, Petri MA, Schmeckpeper BJ et al. Prevalence of a mutation causing C2 deficiency in systemic lupus erythematosus. J Rheumatol 1994; 21(6): 1128-1133.
26. Agnello V. Association of systemic lupus erythematosus and SLE-like syndromes with and acquired complement deficiency states. Arthritis Rheum 1978; 21(5 Suppl.): S146-S152.
27. Yang Y, Chung EK, Zhou B, Lhotta K, Hebert LA, Birmingham DJ, Rovin BH, Yu CY. The intricate role of complement component C4 in human systemic lupus erythematosus. CurrDir Autoimmun 2004; 7: 98-132.
28. Hartung K, Baur MP, Coldewey R et al. Major histocompatibility complex haplotypes and complement C4 alleles in systemic lupus erythematosus. Results of a multicenter study. J Clin Invest 1992; 90(4): 1346-1351.
29. Kelly J, Moser K, Harley J. The genetics of systemic lupus erythematosus: putting the pieces together. Genes Immun 2002; 3(Suppl 1): S71-S85.
30. Fronek Z, Timmerman LA, Alper CA et al. Major histocompatibility complex associations with systemic lupus erythematosus. Am J Med 1988; 85(6A): 42-44.
31. Sullivan KE. Genetics of systemic lupus erythematosus. Clinical implications. Rheum Dis Clin N Am 2000; 26(2): 229-232.
32. Prodeus AP, Goerg S, Shen LM et al. A critical role for complement in maintenance of self-tolerance. Immunity 1998; 9(9): 721-731.
33. Urushihara M, Kagami S, Yasutomo K et al. Sisters with alpha-mannosidosis and systemic lupus erythematosus. Eur J Pediatr 2004; 163(4-5): 192-195.
34. Zhuang H, Kosboth M, Lee P et al. Lupus-like disease and high interferon levels corresponding to trisomy of the type I interferon cluster on chromosome 9p. Arthritis Rheum 2006; 54(5): 1573-1579.
35. Sestak AL, Nath SK, Harley JB. Genetics of systemic lupus erythematosus: how far have we come? Rheum Dis Clin N Am 2005; 3: 223-244,
36. Behrens TW, Graham RR, Kyogoku C et al. Progress towards understanding the genetic pathogenesis of systemic lupus erythematosus. Novarris Found Symp 2005; 267: 145-160.
37. Wilson AG, Gordon C, di Giovine FS et al. A genetic association between systemic lupus erythematosus and tumor necrosis factor alpha. Eur J Immunol 1994; 24(1): 191-195.
38. Palucka AK, Blanck JP, Bennett L et al. J. Cross-regulation of TNF and IFN-α in autoimmune diseases. Proc Nat Acad Sci USA 2005; 102(9): 3372-3377.
39. McCarthy DD, Summers-Deluca L, Vu F et al. The lymphotoxin pathway: beyond lymph node development. Immunol Res 2006; 35(1-2): 41-54.
40. Singer DS, Zinger H, Kohn LD et al. Differing MHC class I requirements for induction and propagation of experimental systemic lupus erythematosus. Eur J Immunol 1999; 29(7): 2259-2268.
41. McGhee-Harvey A, Shulman L. Connective tissue disease and the chronic biologic false-positive test for syphilis (BFP reaction). Med Clin N Am 1966; 50: 1271-1279.
42. Exner T, Barber S, Kronenbert H et al. Familial association of the lupus anticoagulant. Br J Haematol 1980; 45: 89-96.
43. Perraudin M, Rousseau A, Desbois J et al. Thromboses veineuses, anticoagulant circulant et lupus erythemateux dissemine: a propos de deux cas chez deux soeurs HLA identiques. Semaine des Hopitaux Paris 1981; 57: 1913-1919.
44. Goldberg S, Conti-Kelly A, Greco T. A family study of anticardiolipin antibodies and associated clinical conditions. Am J Med 1995; 99: 473-479.
45. Mackworth-Young C, Chan J, Harris N et al. High incidence of anticardiolipin antibodies in relatives of patients with systemic lupus erythematosus. J Rheumatol 1987; 14: 723-726.
46. Saraux A, Jouquan J, LeGoff P et al. Environmental factors may modulate antiphospholipid antibody production in family members of patients with systemic lupus erythematosus. Arthritis Rheum 1999; 42: 1062-1065.
47. Palomo I, Pereira J, Alarcon M et al. Antiphospholipid antibodies in Chilean patients with systemic lupus erythematosus. J Lab Clin Med 2002: 140: 336-341.
48. Avcin T, Cimaz R, Meroni P. Recent advances in antiphospholipid antibodies and antiphospholipid syndromes in pediatric populations. Lupus 2002; 11: 4-10.
49. Rapizzi E, Ruffatti A, Tonello M et al. Correction for age of anticardiolipin antibodies cut-off points. J Clin Lab Anal 2000; 14(3): 87-90.
50. Avcin T, Ambrozic A, Kuhar M et al. Anticardiolipin and anti-b2 glycoprotein I antibodies in sera of 61 apparently healthy children at regular preventive visits. Rheumatology 2001; 40: 565-573.
51. Ford P, Brunet D, Lillicrap D et al. Premature stroke in a family with lupus anticoagulant and antiphospholipid antibodies. Stroke 1990; 21: 66-71.
52. Goel N, Ortel T, Bali K et al. Familial antiphospholipid antibody syndrome: criteria for disease and evidence for autosomal dominant inheritance. Arthritis Rheum 1999; 42: 318-327.
53. Wilson W, Gharavi A, Koike T et al. International consensus statement on preliminary classification criteria for definite antiphospholipid syndrome. Arthritis Rheum 1999; 42: 1309.
54. Miyakis S, Lockshin M, Atsumi T et al. International consensus statement on an update of the classification criteria for definite antiphospholipid syndrome (APS). J Thromb Haemost 2006; 4(2): 295-306.
55. Pettee A, Wasserman B, Adams N et al. Familial Sneddon's syndrome: clinical, hematologic, and radiographic findings in two brothers. Neurology 1994; 44: 399-405.
56. Szmyrka-Kaczmarek M, Daikeler T, Benz D et al. Familial inflammatory Sneddon's syndrome - case report and review of the literature. Clin Rheumatol 2005; 24: 79-82.
57. Mineharu Y, Takenaka K, Yamakawa H et al. Inheritance pattern of familial moyamoya disease: autosomal dominant mod and genomic imprinting. J Neurol Neurosurg Psy 2006; 77: 1025-1029.
58. Kang H, Kim S, Cho B et al. Single nucleotide polymorphisms of tissue inhibitor of metalloproteinase genes in familial moyamoya disease. Neurosurg 2006; 58: 1074-1080.
59. Lee C, Lee S, Ryu S et al. Systemic lupus erythematosus associated with familial moyamoya disease. Korean J Int Med 2003; 18: 244-247.
60. Akiguchi I, Tomimoto H, Kinoshita M et al. Effects of antithrombin on Binswanger's disease with antiphospholipid antibody syndrome. Neurology 1999; 52: 398-401.
61. Eljajj I, Uthman I, Chahel A et al. Familial antiphospholipid antibodies and acquired circulating anticoagulants. Lupus 2004; 13: 812-814.
62. Cantalapiedra A, Avello A, Navarro J et al. Familial occurrence of primary antiphospholipid syndrome. Thrombosis Res 1999; 95: 127-129.
63. Tanaseanu C, Tanaseanu S. Familial lupus anticoagulant. Romanian Arch Microbiol Immunol 1999; 58: 259-265.
64. Hellan M, Kuhnel E, Speiser W et al. Familial lupus anticoagulant: a case report and review of the literature. Blood Coag Fibrinolysis 1998; 9: 195-200.
65. Bansal A, Hogan P, Gibbs H et al. Familial primary antiphospholipid antibody syndrome. Arthritis Rheum 1996; 39: 706-707.
66. Brenner B, Vulfsons S, Lanir N et al. Coexistence of familial antiphospholipid syndrome and factor V Leiden: impact on thrombotic diathesis. Br J Haematol 1996; 94: 166-167.
67. Alarcon-Segovia D, Ruiz-Arguelles G, Garces-Eisele J et al. Inherited activated protein C resistance in a patient with familial primary antiphospholipid syndrome. J Rheumatol 1996; 23: 2162-2165.
68. Schutt M, Kluter H, Hagedorn-Griewe M et al. Familial coexistence of primary antiphospholipid syndrome and factor V Leiden. Lupus 1998; 7: 176-182.
69. Nucera C, Vaccaro M, Moleti M et al. Antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related to MTHFR gene C677T and A1298C heterozygous mutations in a young man with idiopathic hypoparathyroidism (diGeorge syndrome). J Clin Endocrinol Metab 2006; 91: 2021-2026.
70. Weber M, Hayem G, DeBandt M et al. The family history of patients with primary or secondary antiphospholipid syndrome (APS). Lupus 2000; 9: 258-263.
71. Colucci A, Di Lorenzo G, Ingrassia A et al. Blood antiphospholipid antibody levels are influenced by age, sex and HLA-B9, DR3 phenotype. Exp Clin Immunogen 1992; 9: 72-79.
72. Savi M, Ferraccioli G, Neri T et al. HLA-DR antigens and anticardiolipin antibodies in northern Italian systemic lupus erythematosus patients. Arthritis Rheum 1988; 31: 1568-1570.
73. Goldstein R, Moulds J, Smith C et al. MHC studies of the primary antiphospholipid antibody syndrome and antiphospholipid antibodies in systemic lupus erythematosus. J Rheumatol 1996; 23: 1173-1179.
74. McHugh N, Maddison P. HLA-DR antigens and anticardiolipin antibodies in patients with systemic lupus erythematosus. Arthritis Rheum 1989; 32: 1623-1624.
75. Asherson R, Doherty D, Vergani D et al. Major histocompatibility complex associations with primary antiphospholipid syndrome. Arthritis Rheum 1992; 35: 124-125.
76. Dagenais P, Urowitz M, Gladman D et al. A family study of the antiphospholipid syndrome associated with other autoimmune diseases. J Rheumatol 1992; 19: 1393-1396.
77. May K, West S, Moulds J et al. Different manifestations of the antiphospholipid antibody syndrome in a family with systemic lupus erythematosus. Arthritis Rheum 1993; 36: 528-533.
78. Camps M, Cuadrado M, Ocon P et al. Association between HLA class II antigens and primary antiphospholipid syndrome from the south of Spain. Lupus 1995; 4: 51-55.
79. Arnett F, Olsen M, Anderson K et al. Molecular analysis of major histocompatibility complex alleles with the lupus anticoagulant. J Clin Invest 1991; 87: 1490-1495.
80. Hudson N, Busque L, Rauch J et al. Familial antiphospholipid syndrome and HLA-DRB gene associations. Arthritis Rheum 1997; 40: 1907-1908.
81. Bertolaccini M, Atsumi T, Caliz A et al. Association of antiphosphatidylserine/prothrombin autoantibodies with HLA class II genes. Arthritis Rheum 2000; 43: 683-688.
82. Arnett F, Thiagarajan P, Ahn C et al. Associations of anti-b2-glycoprotein I autoantibodies with HLA class II alleles in three ethnic groups. Arthritis Rheum 1999; 42: 268-274.
83. Atsumi T, Bertolaccini M, Koike T. Genetics of antiphospholipid syndrome. Rheum Dis Clin NAm 2001; 27: 565-572.
84. Bertolaccini M, Atsumi T, Lanchbury J et al. Plasma tumor necrosis factor alpha levels and the -238*A promoter polymorphism in patients with antiphospholipid syndrome. Thromb Haemostas 2001; 85: 198-203.
85. Sammaritano L, Ng S, Sobel R et al. Anticardiolipin IgG subclasses: association of IgG2 with arterial and/or venous thrombosis. Arthritis Rheum 1997; 40: 1988-2006.
86. Vargas-Alarcon G, Granados J, Bekker C et al. Association of HLA-DR5 (possibly DRB1*1201) with the primary antiphospholipid syndrome in Mexican patients. Arthritis Rheum 1995; 38: 1340-1341.
87. Granados J, Vargas-Alarcon G, Drenkard C et al. Relationship of anticardiolipin antibodies and antiphospholipid syndrome to HLA-DR7 in Mexican patients with systemic lupus erythematosus (SLE). Lupus 1996; 6: 57-62.