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Genetics and Origin of Antiphospholipid Syndrome

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Antiphospholipid Antibody Syndrome

Part of the book series: Rare Diseases of the Immune System ((RDIS))

Abstract

Antiphospholipid syndrome (APS) is a multisystemic autoimmune disorder characterized by vascular thrombosis and/or pregnancy morbidity associated with the concomitant detection of antiphospholipid antibodies (aPL), including lupus anticoagulant (LA), anticardiolipin antibodies (aCL), and anti-β2 glycoprotein I (anti-β2GPI) antibodies. Despite several experimental models and family studies, the underlying genetic factors predisposing to APS have not yet been clearly defined. Similarly, the origin of pathogenic aPL remains to be elucidated, with most of the evidence supporting the role of infectious agents as responsible for the ‘second hit’ in the APS pathophysiological mechanisms, in an individual with a procoagulant phenotype. The focus of this chapter is to gather the most recent scientific evidence with regard to genetics and origin of APS.

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Authors and Affiliations

  1. Zabludowicz Center for Autoimmune Diseases, Chaim Sheba Medical Center – Affiliated to Tel Aviv University, Tel Hashomer, 52621, Israel

    Alessandra Soriano MD & Yehuda Shoenfeld MD, FRCP (Hon), MaACR

  2. Department of Clinical Medicine and Rheumatology, Campus Bio-Medico University, Rome, 00128, Italy

    Alessandra Soriano MD

  3. Zabludowicz Center for Autoimmune Diseases, Chaim Sheba Medical Center – Affiliated to Sackler Faculty of Medicine, Tel Aviv University, Tel Hashomer, 52621, Israel

    Miri Blank PhD

  4. Incumbent of the Laura Schwarz-Kipp Chair for Research of Autoimmune Diseases, Sackler Faculty of Medicine, Tel-Aviv University, Tel Hashomer, 52621, Israel

    Yehuda Shoenfeld MD, FRCP (Hon), MaACR

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  1. Alessandra Soriano MD
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  2. Miri Blank PhD
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  3. Yehuda Shoenfeld MD, FRCP (Hon), MaACR
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Correspondence to Yehuda Shoenfeld MD, FRCP (Hon), MaACR .

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Editors and Affiliations

  1. Department of Rheumatology, Gaetano Pini Institute, Milan, Milano, Italy

    Pier Luigi Meroni

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Soriano, A., Blank, M., Shoenfeld, Y. (2015). Genetics and Origin of Antiphospholipid Syndrome. In: Meroni, P. (eds) Antiphospholipid Antibody Syndrome. Rare Diseases of the Immune System. Springer, Cham. https://doi.org/10.1007/978-3-319-11044-8_1

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  • DOI: https://doi.org/10.1007/978-3-319-11044-8_1

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