, N Engl J Med. 7 mai, vol.360, pp.1989-2003, 2009.
The Pathogenesis of Systemic Sclerosis, Rheum Dis Clin North Am. août, vol.41, issue.3, pp.367-82, 2015. ,
Scleroderma (systemic sclerosis): classification, subsets and pathogenesis, J Rheumatol. févr, vol.15, issue.2, pp.202-207, 1988. ,
Criteria for the classification of early systemic sclerosis, J Rheumatol. juill, vol.28, issue.7, pp.1573-1579, 2001. ,
Circulating Anti-Nuclear Antibodies in Systemic Sclerosis: Utility in Diagnosis and Disease Subsetting, J Nippon Med Sch Nippon Ika Daigaku Zasshi, vol.84, issue.2, pp.56-63, 2017. ,
Autoantibodies in systemic sclerosis, Autoimmun Rev. janv, vol.12, issue.3, pp.340-54, 2013. ,
Autoantibodies as predictive tools in systemic sclerosis, Nat Rev Rheumatol, vol.6, issue.2, pp.112-118, 2010. ,
Autoantibodies in systemic sclerosis, Semin Arthritis Rheum. août, vol.35, issue.1, pp.35-42, 2005. ,
Autoantibodies in systemic sclerosis: unanswered questions, Front Immunol, vol.6, p.167, 2015. ,
The clinical relevance of autoantibodies in scleroderma, Arthritis Res Ther, vol.5, issue.2, pp.80-93, 2003. ,
Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis, J Dermatol. janv, vol.37, issue.1, pp.42-53, 2010. ,
High-Throughput Screening Discovers Multiple Novel Autoantibodies in Rheumatoid Arthritis, Systemic Lupus, Systemic Sclerosis and Sjogrens Syndrome (abstract), vol.68, 2016. ,
In vitro reconstitution of a highly processive recombinant human dynein complex, EMBO J. 1 sept, vol.33, issue.17, pp.1855-68, 2014. ,
A novel mutation of BICD2 gene associated with juvenile amyotrophic lateral sclerosis, Amyotroph Lateral Scler Front Degener. 23 mars, pp.1-3, 2017. ,
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.965-73, 2013. ,
Validation of Novel Biomarker Candidates for Systemic Sclerosis (abstract), Arthritis Rheumatol, vol.67, issue.10, 2015. ,
The Novel Anti-BICD2 Autoantibody Potentially Predicts a Favorable Disease Course in SSc (abtract), Arthritis Rheumatol, vol.68, issue.10 ,
Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype, Autoimmun Rev. 31 janv, 2018. ,
2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative, Arthritis Rheum, vol.65, issue.11, pp.2737-2784, 2013. ,
Prevalence and clinical profiles of « autoantibody-negative » systemic sclerosis subjects, Clin Exp Rheumatol. déc, vol.32, issue.6, 2014. ,
Antinuclear antibodynegative systemic sclerosis, Semin Arthritis Rheum. juin, vol.44, issue.6, pp.680-686, 2015. ,
Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes, EMBO J. 1 août, vol.20, issue.15, pp.4041-54, 2001. ,
Editorial: Are Autoantibodies Involved in the Pathogenesis of Systemic Sclerosis?, Arthritis Rheumatol Hoboken NJ. sept, vol.68, issue.9, pp.2067-70, 2016. ,
Pathogenic autoantibodies in systemic sclerosis, Curr Opin Immunol. déc, vol.19, issue.6, pp.640-645, 2007. ,
The pathogenic role of autoantibodies to nuclear autoantigens in systemic sclerosis (scleroderma), J Rheumatol. sept, vol.32, issue.9, pp.1643-1652, 2005. ,
Systemic sclerosis. Nat Rev Dis Primer, vol.23, p.15002, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-02134109
, N Engl J Med. 7 mai, vol.360, pp.1989-2003, 2009.
Incidence and prevalence of systemic sclerosis: a systematic literature review, Semin Arthritis Rheum. févr, vol.37, issue.4, pp.223-258, 2008. ,
Prevalence of systemic sclerosis in a French multi-ethnic county, Rheumatol Oxf Engl. sept, vol.43, issue.9, pp.1129-1166, 2004. ,
Estimating the prevalence of systemic sclerosis in the Lorraine region, France, by the capture-recapture method, Semin Arthritis Rheum. avr, vol.42, issue.5, pp.530-538, 2013. ,
URL : https://hal.archives-ouvertes.fr/hal-01794577
Epidemiology of systemic sclerosis: incidence, prevalence, survival, risk factors, malignancy, and environmental triggers, Curr Opin Rheumatol. mars, vol.24, issue.2, pp.165-70, 2012. ,
Occupational and environmental scleroderma. Systematic review and meta-analysis, Clin Rheumatol. mars, vol.36, issue.3, pp.569-82, 2017. ,
The pathogenesis of systemic sclerosis, Annu Rev Pathol, vol.6, pp.509-546, 2011. ,
Major histocompatibility complex (MHC) class II alleles, haplotypes and epitopes which confer susceptibility or protection in systemic sclerosis: analyses in 1300 Caucasian, African-American and Hispanic cases and 1000 controls, Ann Rheum Dis. 12 juill, vol.69, issue.5, pp.822-829, 2010. ,
Advances in pathogenesis and treatment of systemic sclerosis, Clin Med Lond Engl. févr, vol.16, issue.1, pp.55-60, 2016. ,
The Pathogenesis of Systemic Sclerosis, Rheum Dis Clin North Am. août, vol.41, issue.3, pp.367-82, 2015. ,
An Immunochipbased interrogation of scleroderma susceptibility variants identifies a novel association at DNASE1L3, Arthritis Res Ther, vol.16, issue.5, 2014. ,
Association of TNFSF4 (OX40L) polymorphisms with susceptibility to systemic sclerosis, Ann Rheum Dis. 1 mars, vol.69, issue.3, pp.550-555, 2010. ,
The STAT4 gene influences the genetic predisposition to systemic sclerosis phenotype, Hum Mol Genet. 1 juin, vol.18, issue.11, pp.2071-2078, 2009. ,
Association between the IRF5 rs2004640 functional polymorphism and systemic sclerosis: A new perspective for pulmonary fibrosis, Arthritis Rheum. 1 janv, vol.60, issue.1, pp.225-258, 2009. ,
STAT4 is a genetic risk factor for systemic sclerosis having additive effects with IRF5 on disease susceptibility and related pulmonary fibrosis, Arthritis Rheum. 1 août, vol.60, issue.8, pp.2472-2481, 2009. ,
Systemic sclerosis, Lancet Lond Engl, vol.390, pp.1685-99, 2017. ,
URL : https://hal.archives-ouvertes.fr/hal-02042780
Pathogenic autoantibodies in systemic sclerosis, Curr Opin Immunol. déc, vol.19, issue.6, pp.640-645, 2007. ,
Macrophage Involvement in Systemic Sclerosis: Do We Need More Evidence?, Curr Rheumatol Rep. 1 janv, vol.18, issue.1, p.2, 2016. ,
Systemic sclerosis: a prototypic multisystem fibrotic disorder, J Clin Invest. 1 mars, vol.117, issue.3, pp.557-67, 2007. ,
Évaluation des troubles de la pigmentation dans la sclérodermie systémique : étude rétrospective d'une cohorte de 9 patients, vol.9 ,
Scleroderma (systemic sclerosis): classification, subsets and pathogenesis, J Rheumatol. févr, vol.15, issue.2, pp.202-207, 1988. ,
Natural history of systemic sclerosis and the assessment of disease activity, severity, functional status, and psychologic well-being, Rheum Dis Clin North Am. mai, vol.29, issue.2, pp.255-73, 2003. ,
Prevalence, incidence, survival, and disease characteristics of systemic sclerosis in a large US population, Arthritis Rheum. 1 août, vol.48, issue.8, pp.2246-55, 2003. ,
Changes in causes of death in systemic sclerosis, Ann Rheum Dis. juill, vol.66, issue.7, pp.940-944, 1972. ,
Mapping and predicting mortality from systemic sclerosis, Ann Rheum Dis, vol.76, issue.11, pp.1897-905, 2017. ,
Trends in mortality in patients with systemic sclerosis over 40 years: a systematic review and meta-analysis of cohort studies, Rheumatol Oxf Engl. juin, vol.51, issue.6, pp.1017-1043, 2012. ,
, Subcommittee for scleroderma criteria of the American Rheumatism Association Diagnostic and Therapeutic Criteria Committee, Arthritis Rheum. mai, vol.23, issue.5, pp.581-90, 1980.
Systemic sclerosis. Nat Rev Dis Primer, vol.23, p.15002, 2015. ,
URL : https://hal.archives-ouvertes.fr/hal-02134109
2013 classification criteria for systemic sclerosis: an American College of Rheumatology/European League against Rheumatism collaborative initiative, Arthritis Rheum, vol.65, issue.11, pp.2737-2784, 2013. ,
Scleroderma (Systemic Sclerosis): Classification, Subsets and Pathogenesis, The Journal of rheumatology, vol.15, pp.202-207, 1988. ,
Criteria for the classification of early systemic sclerosis, J Rheumatol. juill, vol.28, issue.7, pp.1573-1579, 2001. ,
Preliminary criteria for the very early diagnosis of systemic sclerosis: results of a Delphi Consensus Study from EULAR Scleroderma Trials and Research Group, Ann Rheum Dis. mars, vol.70, issue.3, pp.476-81, 2011. ,
Protocole National de Diagnostic et de Soins. PNDS 2017. Sclérodermie Systémique ,
Autoantibodies in systemic sclerosis: unanswered questions, Front Immunol, vol.6, p.167, 2015. ,
Report of the First International Consensus on Standardized Nomenclature of Antinuclear Antibody HEp-2 Cell Patterns, Front Immunol, vol.6, p.412, 2014. ,
Autoantibodies in systemic sclerosis, Autoimmun Rev. janv, vol.12, issue.3, pp.340-54, 2013. ,
Systemic sclerosis in 3 US ethnic groups: a comparison of clinical, sociodemographic, serologic, and immunogenetic determinants, Semin Arthritis Rheum. avr, vol.30, issue.5, pp.332-378, 2001. ,
Prevalence of anti-RNA polymerase III antibodies in systemic sclerosis: New data from a French cohort and a systematic review and meta-analysis, Arthritis Rheumatol Hoboken NJ. févr, vol.66, issue.2, pp.407-424, 2014. ,
Malignancies in Patients with Anti-RNA Polymerase III Antibodies and Systemic Sclerosis: Analysis of the EULAR Scleroderma Trials and Research Cohort and Possible Recommendations for Screening, J Rheumatol. 1 mai, vol.44, issue.5, pp.639-686, 2017. ,
,
, Rev Med Interne. juin, vol.25, issue.6, pp.442-449, 2004.
Circulating Anti-Nuclear Antibodies in Systemic Sclerosis: Utility in Diagnosis and Disease Subsetting, J Nippon Med Sch Nippon Ika Daigaku Zasshi, vol.84, issue.2, pp.56-63, 2017. ,
The clinical relevance of autoantibodies in scleroderma, Arthritis Res Ther, vol.5, issue.2, pp.80-93, 2003. ,
Autoantibodies in systemic sclerosis and fibrosing syndromes: clinical indications and relevance, Curr Opin Rheumatol, vol.16, issue.6, pp.723-755, 2004. ,
Autoantibody profiles in systemic sclerosis: predictive value for clinical evaluation and prognosis, J Dermatol. janv, vol.37, issue.1, pp.42-53, 2010. ,
Autoantibodies as predictive tools in systemic sclerosis, Nat Rev Rheumatol, vol.6, issue.2, pp.112-118, 2010. ,
Clinical significance of anti-topoisomerase ) antibody levels determined by ELISA in systemic sclerosis, Rheumatology, vol.40, issue.10, pp.1135-1175, 2001. ,
The level of anti-topoisomerase I antibodies highly correlates with metacarpophalangeal and proximal interphalangeal joints flexion contractures in patients with systemic sclerosis, Clin Exp Rheumatol. août, vol.24, issue.4, pp.407-419, 2006. ,
Correlation of serum anti-DNA topoisomerase I antibody levels with disease severity and activity in systemic sclerosis, Arthritis Rheum. 6 mai, vol.48, issue.5, pp.1363-73, 2003. ,
A long-term longitudinal study of anticentromere antibodies, Arthritis Rheum. févr, vol.27, issue.2, pp.121-125, 1984. ,
A longitudinal study of anti-RNA polymerase III antibody levels in systemic sclerosis, Rheumatol Oxf Engl, vol.48, issue.10, pp.1218-1239, 2009. ,
Longitudinal analysis of autoantibody response to topoisomerase I in systemic sclerosis, Arthritis Rheum. 2 avr, vol.43, issue.5, pp.1074-84, 2001. ,
Association of anti-RNA polymerase III autoantibodies and cancer in scleroderma, Arthritis Res Ther. 14 févr, vol.16, issue.1, p.53, 2014. ,
Close temporal relationship between onset of cancer and scleroderma in patients with RNA polymerase I/III antibodies, Arthritis Rheum. 6 mai, vol.62, issue.9, pp.2787-95, 2010. ,
Association of the Autoimmune Disease Scleroderma with an Immunologic Response to, Cancer. Science. 10 janv, vol.343, issue.6167, pp.152-159, 2014. ,
,
, Antibodies As a Marker of Cancer-Associated Scleroderma, Arthritis Rheumatol Hoboken NJ. juin, vol.69, issue.6, pp.1306-1318, 2017.
Anti-U11/U12 RNP antibodies in systemic sclerosis: a new serologic marker associated with pulmonary fibrosis, Arthritis Rheum. 15 juill, vol.61, issue.7, pp.958-65, 2009. ,
Autoantibodies to RuvBL1 and RuvBL2: a novel systemic sclerosis-related antibody associated with diffuse cutaneous and skeletal muscle involvement, Arthritis Care Res. avr, vol.66, issue.4, pp.575-84, 2014. ,
Clinical and serologic correlates of anti-PM/Scl antibodies in systemic sclerosis: a multicenter study of 763 patients, Arthritis Rheumatol Hoboken NJ. juin, vol.66, issue.6, pp.1608-1623, 2014. ,
Autoantibodies against B23, a nucleolar phosphoprotein, occur in scleroderma and are associated with pulmonary hypertension, Arthritis Rheum. 15 févr, vol.49, issue.1, pp.85-92, 2003. ,
The pathogenic role of autoantibodies to nuclear autoantigens in systemic sclerosis (scleroderma), J Rheumatol. sept, vol.32, issue.9, pp.1643-1652, 2005. ,
Direct binding of anti-DNA topoisomerase I autoantibodies to the cell surface of fibroblasts in patients with systemic sclerosis, Arthritis Rheum, vol.50, issue.10, pp.3265-74, 2004. ,
DNA topoisomerase I binding to fibroblasts induces monocyte adhesion and activation in the presence of antitopoisomerase I autoantibodies from systemic sclerosis patients, Arthritis Rheum. 28 févr, vol.54, issue.3, pp.963-73, 2006. ,
Progress in understanding the diagnostic and pathogenic role of autoantibodies associated with systemic sclerosis, Curr Opin Rheumatol, vol.28, issue.6, pp.586-94, 2016. ,
Functional autoantibodies in systemic sclerosis pathogenesis, Curr Rheumatol Rep. mai, vol.17, issue.5, p.34, 2015. ,
Functional autoantibodies in systemic sclerosis, Semin Immunopathol. sept, vol.37, issue.5, pp.529-571, 2015. ,
Editorial: Are Autoantibodies Involved in the Pathogenesis of Systemic Sclerosis?, Arthritis Rheumatol Hoboken NJ. sept, vol.68, issue.9, pp.2067-70, 2016. ,
Antinuclear antibodynegative systemic sclerosis, Semin Arthritis Rheum. juin, vol.44, issue.6, pp.680-686, 2015. ,
Prevalence and clinical profiles of « autoantibody-negative » systemic sclerosis subjects, Clin Exp Rheumatol. déc, vol.32, issue.6, 2014. ,
Bicaudal D induces selective dynein-mediated microtubule minus end-directed transport, EMBO J, vol.22, issue.22, pp.6004-6019, 2003. ,
Mammalian Golgi-associated Bicaudal-D2 functions in the dynein-dynactin pathway by interacting with these complexes, EMBO J. 1 août, vol.20, issue.15, pp.4041-54, 2001. ,
In vitro reconstitution of a highly processive recombinant human dynein complex, EMBO J. 1 sept, vol.33, issue.17, pp.1855-68, 2014. ,
Distal myopathy due to BICD2 mutations, Clin Neurol Neurosurg. févr, vol.165, pp.47-56, 2018. ,
Molecular defects in the motor adaptor BICD2 cause proximal spinal muscular atrophy with autosomaldominant inheritance, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.955-64, 2013. ,
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.965-73, 2013. ,
DOI : 10.1016/j.ajhg.2013.04.018
URL : https://doi.org/10.1016/j.ajhg.2013.04.018
Mutations in BICD2, which encodes a golgin and important motor adaptor, cause congenital autosomal-dominant spinal muscular atrophy, Am J Hum Genet. 6 juin, vol.92, issue.6, pp.946-54, 2013. ,
Mutations in cytoplasmic dynein and its regulators cause malformations of cortical development and neurodegenerative diseases, Biochem Soc Trans. déc, vol.41, issue.6, pp.1605-1617, 2013. ,
High-Throughput Screening Discovers Multiple Novel Autoantibodies in Rheumatoid Arthritis, Systemic Lupus, Systemic Sclerosis and Sjogrens Syndrome (abstract), vol.68, 2016. ,
Validation of Novel Biomarker Candidates for Systemic Sclerosis (abstract), Arthritis Rheumatol, vol.67, issue.10, 2015. ,
The Novel Anti-BICD2 Autoantibody Potentially Predicts a Favorable Disease Course in SSc (abtract), Arthritis Rheumatol, vol.68, issue.10 ,
Bicaudal D2 is a novel autoantibody target in systemic sclerosis that shares a key epitope with CENP-A but has a distinct clinical phenotype, Autoimmun Rev, vol.31, issue.2018 ,