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Review

HLA associations and Löfgren’s syndrome

Pages 55-62 | Published online: 10 Jan 2014

References

  • Franke A, Fischer A, Nothnagel M et al. Genome-wide association analysis in sarcoidosis and Crohn’s disease unravels a common susceptibility locus on 10p12.2. Gastroenterology135(4), 1207–1215 (2008).
  • Hofmann S, Franke A, Fischer A et al. Genome-wide association study identifies ANXA11 as a new susceptibility locus for sarcoidosis. Nat. Genet. (2008).
  • Iannuzzi MC. Genetics of sarcoidosis. Semin. Respir. Crit. Care Med.28(1), 15–21 (2007).
  • Iannuzzi MC, Iyengar SK, Gray-McGuire C et al. Genome-wide search for sarcoidosis susceptibility genes in African–Americans. Genes Immun.6(6), 509–518 (2005).
  • Iannuzzi MC, Rybicki BA. Genetics of sarcoidosis: candidate genes and genome scans. Proc. Am. Thorac. Soc.4(1), 108–116 (2007).
  • Rybicki BA, Levin AM, McKeigue P et al. A genome-wide admixture scan for ancestry-linked genes predisposing to sarcoidosis in African-Americans. Genes Immun.12(2), 67–77 (2011).
  • Schurmann M, Reichel P, Muller-Myhsok B, Schlaak M, Muller-Quernheim J, Schwinger E. Results from a genome-wide search for predisposing genes in sarcoidosis. Am. J. Respir. Crit. Care Med.164(5), 840–846 (2001).
  • Forman JD, Klein JT, Silver RF, Liu MC, Greenlee BM, Moller DR. Selective activation and accumulation of oligoclonal V β-specific T cells in active pulmonary sarcoidosis. J. Clin. Invest.94(4), 1533–1542 (1994).
  • Grunewald J, Janson CH, Eklund A et al. Restricted V α 2.3 gene usage by CD4+ T lymphocytes in bronchoalveolar lavage fluid from sarcoidosis patients correlates with HLA-DR3. Eur. J. Immunol.22(1), 129–135 (1992).
  • Grunewald J, Olerup O, Persson U, Ohrn MB, Wigzell H, Eklund A. T-cell receptor variable region gene usage by CD4+ and CD8+ T cells in bronchoalveolar lavage fluid and peripheral blood of sarcoidosis patients. Proc. Natl Acad. Sci. USA91(11), 4965–4969 (1994).
  • Moller DR. T-cell receptor genes in sarcoidosis. Sarcoidosis Vasc. Diffuse Lung Dis.15(2), 158–164 (1998).
  • Moller DR. Involvement of T cells and alterations in T cell receptors in sarcoidosis. Semin. Respir. Infect.13(3), 174–183 (1998).
  • Löfgren S. Erythema nodosum: studies on etiology and pathogenesis in 185 adult cases. Acta Med. Scand.124, 1–197 (1946).
  • Caplan HI, Katz WA, Rubenstein M. Periarticular inflammation, bilateral hilar adenopathy and a sarcoid reaction. Arthritis Rheum.13(2), 101–111 (1970).
  • Visser H, Vos K, Zanelli E et al. Sarcoid arthritis: clinical characteristics, diagnostic aspects, and risk factors. Ann. Rheum. Dis.61(6), 499–504 (2002).
  • Grunewald J, Eklund A. Sex-specific manifestations of Lofgren’s syndrome. Am. J. Respir. Crit. Care Med.175(1), 40–44 (2007).
  • Mana J, Gomez-Vaquero C, Salazar A, Valverde J, Juanola X, Pujol R. Periarticular ankle sarcoidosis: a variant of Lofgren’s syndrome. J. Rheumatol.23(5), 874–877 (1996).
  • Grunewald J. Clinical aspects and immune reactions in sarcoidosis. Clin. Respir. J.1, 64–73 (2007).
  • Grunewald J, Brynedal B, Darlington P et al. Different HLA-DRB1 allele distributions in distinct clinical subgroups of sarcoidosis patients. Respir. Res.11, 25 (2010).
  • Baughman RP, Teirstein AS, Judson MA et al. Clinical characteristics of patients in a case control study of sarcoidosis. Am. J. Respir. Crit. Care Med.164(10 Pt 1), 1885–1889 (2001).
  • Sato H, Woodhead FA, Ahmad T et al. Sarcoidosis HLA class 2 genotyping distinguishes differences of clinical phenotype across ethnic groups. Hum. Mol. Genet.19(20), 4100–4111 (2010).
  • Ohta H, Tazawa R, Nakamura A et al. Acute-onset sarcoidosis with erythema nodosum and polyarthralgia (Löfgren’s syndrome) in Japan: a case report and a review of the literature. Intern. Med.45(9), 659–662 (2006).
  • Yanardag H, Pamuk ÖN, Karayel T. Löfgren syndrome in Turkey. Intern. Med. J.33, 535–537 (2003).
  • Mana J, Gomez-Vaquero C, Montero A et al. Löfgren’s syndrome revisited: a study of 186 patients. Am. J. Med.107(3), 240–245 (1999).
  • Rybicki BA, Iannuzzi MC, Frederick MM et al. Familial aggregation of sarcoidosis. A case-control etiologic study of sarcoidosis (ACCESS). Am. J. Respir. Crit. Care Med.164(11), 2085–2091 (2001).
  • Rybicki BA, Kirkey KL, Major M et al. Familial risk ratio of sarcoidosis in African–American sibs and parents. Am. J. Epidemiol.153(2), 188–193 (2001).
  • Wiman LG. Familial occurrence of sarcoidosis. Scand. J. Respir. Dis. Suppl.80, 115–119 (1972).
  • Sverrild A, Backer V, Kyvik KO et al. Heredity in sarcoidosis: a registry-based twin study. Thorax63(10), 894–896 (2008).
  • Judson MA, Hirst K, Iyengar SK et al. Comparison of sarcoidosis phenotypes among affected African–American siblings. Chest130(3), 855–862 (2006).
  • Iannuzzi M, Rybicki B, Teirstein A. Medical progress: sarcoidosis. N. Engl. J. Med.357, 2153–2165 (2007).
  • Pietinalho A, Ohmichi M, Lofroos AB, Hiraga Y, Selroos O. The prognosis of pulmonary sarcoidosis in Finland and Hokkaido, Japan. A comparative five-year study of biopsy-proven cases. Sarcoidosis Vasc. Diffuse Lung Dis.17(2), 158–166 (2000).
  • Pietinalho A, Ohmichi M, Hiraga Y, Lofroos AB, Selroos O. The mode of presentation of sarcoidosis in Finland and Hokkaido, Japan. A comparative analysis of 571 Finnish and 686 Japanese patients. Sarcoidosis Vasc. Diffuse Lung Dis.13(2), 159–166 (1996).
  • Schurmann M, Lympany PA, Reichel P et al. Familial sarcoidosis is linked to the major histocompatibility complex region. Am. J. Respir. Crit. Care Med.162(3 Pt 1), 861–864 (2000).
  • Hunninghake GW, Costabel U, Ando M et al. ATS/ERS/WASOG statement on sarcoidosis. American Thoracic Society/European Respiratory Society/World Association of Sarcoidosis and Other Granulomatous Disorders. Sarcoidosis Vasc. Diffuse Lung Dis.16(2), 149–173 (1999).
  • Gardner J, Kennedy HG, Hamblin A, Jones E. HLA associations in sarcoidosis: a study of two ethnic groups. Thorax39(1), 19–22 (1984).
  • Hedfors E, Lindstrom F. HLA-B8/DR3 in sarcoidosis. Correlation to acute onset disease with arthritis. Tissue Antigens22(3), 200–203 (1983).
  • Smith MJ, Turton CW, Mitchell DN, Turner-Warwick M, Morris LM, Lawler SD. Association of HLA B8 with spontaneous resolution in sarcoidosis. Thorax36(4), 296–298 (1981).
  • Berlin M, Fogdell-Hahn A, Olerup O, Eklund A, Grunewald J. HLA-DR predicts the prognosis in Scandinavian patients with pulmonary sarcoidosis. Am. J. Respir. Crit. Care Med.156(5), 1601–1605 (1997).
  • Bogunia-Kubik K, Tomeczko J, Suchnicki K, Lange A. HLA-DRB1*03, DRB1*11 or DRB1*12 and their respective DRB3 specificities in clinical variants of sarcoidosis. Tissue Antigens57(1), 87–90 (2001).
  • Grubic Z, Zunec R, Peros-Golubicic T et al. HLA class 1 and class 2 frequencies in patients with sarcoidosis from Croatia: role of HLA-B8, -DRB1*0301, and -DQB1*0201 haplotype in clinical variations of the disease. Tissue Antigens70(4), 301–306 (2007).
  • Grunewald J, Eklund A, Olerup O. Human leukocyte antigen class 1 alleles and the disease course in sarcoidosis patients. Am. J. Respir. Crit. Care Med.169(6), 696–702 (2004).
  • Martinetti M, Tinelli C, Kolek V et al. ‘The sarcoidosis map’: a joint survey of clinical and immunogenetic findings in two European countries. Am. J. Respir. Crit. Care Med.152(2), 557–564 (1995).
  • Mrazek F, Holla LI, Hutyrova B et al. Association of tumour necrosis factor-α, lymphotoxin-α and HLA-DRB1 gene polymorphisms with Löfgren’s syndrome in Czech patients with sarcoidosis. Tissue Antigens65(2), 163–171 (2005).
  • Grunewald I, Eklund A. Specific bronchoalveolar lavage fluid T cells associate with disease in a pair of monozygotic twins discordant for sarcoidosis. J. Intern. Med.250(6), 535–539 (2001).
  • Fontenot AP, Torres M, Marshall WH, Newman LS, Kotzin BL. Beryllium presentation to CD4+ T cells underlies disease-susceptibility HLA-DP alleles in chronic beryllium disease. Proc. Natl Acad. Sci. USA97(23), 12717–12722 (2000).
  • Rossman MD, Kern JA, Elias JA et al. Proliferative response of bronchoalveolar lymphocytes to beryllium. A test for chronic beryllium disease. Ann. Intern. Med.108(5), 687–693 (1988).
  • Saltini C, Winestock K, Kirby M, Pinkston P, Crystal RG. Maintenance of alveolitis in patients with chronic beryllium disease by beryllium-specific helper T cells. N. Engl. J. Med.320(17), 1103–1109 (1989).
  • Falta MT, Bowerman NA, Dai S, Kappler JW, Fontenot AP. Linking genetic susceptibility and T cell activation in beryllium-induced disease. Proc. Am. Thorac. Soc.7(2), 126–129 (2010).
  • Dai S, Murphy GA, Crawford F et al. Crystal structure of HLA-DP2 and implications for chronic beryllium disease. Proc. Natl Acad. Sci. USA107(16), 7425–7430 (2010).
  • Foley PJ, McGrath DS, Puscinska E et al. Human leukocyte antigen-DRB1 position 11 residues are a common protective marker for sarcoidosis. Am. J. Respir. Cell Mol. Biol.25(3), 272–277 (2001).
  • Voorter CE, Amicosante M, Berretta F, Groeneveld L, Drent M, van den Berg-Loonen EM. HLA Class 2 amino acid epitopes as susceptibility markers of sarcoidosis. Tissue Antigens70(1), 18–27 (2007).
  • Grunewald J, Eklund A. Studies of T-lymphocytes in pursuit of sarcoidosis antigens. Lakartidningen99(36), 3508–3513; 3515 (2002).
  • Saltini C, Pallante M, Puxeddu E et al.M. avium binding to HLA-DR expressed alleles in silico: a model of phenotypic susceptibility to sarcoidosis. Sarcoidosis Vasc. Diffuse Lung Dis.25, 100–116 (2008).
  • Thorsby E. HLA associated diseases. Hum. Immunol.53, 1–11 (1997).
  • Candore G, Modica MA, Lio D et al. Pathogenesis of autoimmune diseases associated with 8.1 ancestral haplotype: a genetically determined defect of C4 influences immunological parameters of healthy carriers of the haplotype. Biomed. Pharmacother.57(7), 274–277 (2003).
  • Sato H, Grutters JC, Pantelidis P et al.HLA-DQB1*0201: a marker for good prognosis in British and Dutch patients with sarcoidosis. Am. J. Respir. Cell Mol. Biol.27(4), 406–412 (2002).
  • Rybicki BA, Maliarik MJ, Poisson LM et al. The major histocompatibility complex gene region and sarcoidosis susceptibility in African Americans. Am. J. Respir. Crit. Care Med.167(3), 444–449 (2003).
  • Valentonyte R, Hampe J, Huse K et al. Sarcoidosis is associated with a truncating splice site mutation in BTNL2. Nat. Genet.37(4), 357–364 (2005).
  • Li Y, Wollnik B, Pabst S et al.BTNL2 gene variant and sarcoidosis. Thorax61(3), 273–274 (2006).
  • Spagnolo P, Sato H, Grutters JC et al. Analysis of BTNL2 genetic polymorphisms in British and Dutch patients with sarcoidosis. Tissue Antigens70(3), 219–227 (2007).
  • Wijnen PA, Voorter CE, Nelemans PJ, Verschakelen JA, Bekers O, Drent M. Butyrophilin-like 2 in pulmonary sarcoidosis: a factor for susceptibility and progression? Hum. Immunol.72(4), 342–347 (2011).
  • Spagnolo P, Sato H, Grunewald J et al. A common haplotype of the C–C chemokine receptor 2 gene and HLA-DRB1*0301 are independent genetic risk factors for Löfgren’s syndrome. J. Intern. Med.264(5), 433–441 (2008).
  • Darlington P, Tallstedt L, Padyukov L et al.HLA-DRB1* alleles and symptoms associated with Heerfordt’s syndrome in sarcoidosis. Eur. Respir. J.38(5), 1151–1157 (2011).
  • Grunewald J, Eklund A. Lofgren’s syndrome: human leukocyte antigen strongly influences the disease course. Am. J. Respir. Crit. Care Med.179(4), 307–312 (2009).
  • Bardinas F, Morera J, Fite E, Plasencia A. Seasonal clustering of sarcoidosis. Lancet2(8660), 455–456 (1989).
  • Glennas A, Kvien TK, Melby K et al. Acute sarcoid arthritis: occurrence, seasonal onset, clinical features and outcome. Br. J. Rheumatol.34(1), 45–50 (1995).
  • Wilsher ML. Seasonal clustering of sarcoidosis presenting with erythema nodosum. Eur. Respir. J.12(5), 1197–1199 (1998).
  • Amicosante M, Puxeddu E, Saltini C. Reactivity to mycobacterial antigens by patients with Löfgren’s syndrome as a model of phenotypic susceptibility to disease and disease progression. Am. J. Respir. Crit. Care Med.180(7), 685 (2009).
  • Moller DR, Konishi K, Kirby M, Balbi B, Crystal RG. Bias toward use of a specific T ell receptor β-chain variable region in a subgroup of individuals with sarcoidosis. J. Clin. Invest.82(4), 1183–1191 (1988).
  • Forrester JM, Wang Y, Ricalton N et al. TCR expression of activated T cell clones in the lungs of patients with pulmonary sarcoidosis. J. Immunol.153(9), 4291–4302 (1994).
  • Grunewald J, Eklund A. Role of CD4+ T cells in sarcoidosis. Proc. Am. Thorac. Soc.4(5), 461–464 (2007).
  • Grunewald J, Wahlstrom J, Berlin M, Wigzell H, Eklund A, Olerup O. Lung restricted T cell receptor AV2S3+ CD4+ T cell expansions in sarcoidosis patients with a shared HLA-DRβ chain conformation. Thorax57(4), 348–352 (2002).
  • Dubaniewicz A. Mycobacterium tuberculosis heat shock proteins and autoimmunity in sarcoidosis. Autoimmun. Rev.9(6), 419–424 (2010).
  • Klareskog L, Stolt P, Lundberg K et al. A new model for an etiology of rheumatoid arthritis: smoking may trigger HLA-DR (shared epitope)-restricted immune reactions to autoantigens modified by citrullination. Arthritis Rheum.54(1), 38–46 (2006).
  • Wahlstrom J, Dengjel J, Persson B et al. Identification of HLA-DR-bound peptides presented by human bronchoalveolar lavage cells in sarcoidosis. J. Clin. Invest.117(11), 3576–3582 (2007).
  • Wahlström J, Dengjel J, Persson U et al. Autoimmune T-cell responses to antigenic peptides presented by bronchoalveolar lavage cell HLA-DR molecules in sarcoidosis. Clin. Immunol.133(3), 353–363 (2009).
  • Wahlstrom J, Katchar K, Wigzell H, Olerup O, Eklund A, Grunewald J. Analysis of intracellular cytokines in CD4+ and CD8+ lung and blood T cells in sarcoidosis. Am. J. Respir. Crit. Care Med.163(1), 115–121 (2001).
  • Chen ES, Wahlstrom J, Song Z et al. T cell responses to mycobacterial catalase-peroxidase profile a pathogenic antigen in systemic sarcoidosis. J. Immunol.181(12), 8784–8796 (2008).
  • Song Z, Marzilli L, Greenlee BM et al. Mycobacterial catalase-peroxidase is a tissue antigen and target of the adaptive immune response in systemic sarcoidosis. J. Exp. Med.201(5), 755–767 (2005).

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