TY - CHAP
T1 - Genetics and Origin of Antiphospholipid Syndrome
AU - Soriano, Alessandra
AU - Blank, Miri
AU - Shoenfeld, Yehuda
N1 - Publisher Copyright:
© 2015, Springer International Publishing Switzerland.
PY - 2015
Y1 - 2015
N2 - 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.
AB - 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.
KW - Factor Versus Leiden Mutation
KW - Human Leukocyte Antigen
KW - Lupus Anticoagulant
KW - Systemic Lupus Erythematosus
KW - Tissue Factor Activity
UR - http://www.scopus.com/inward/record.url?scp=84944592955&partnerID=8YFLogxK
U2 - 10.1007/978-3-319-11044-8_1
DO - 10.1007/978-3-319-11044-8_1
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AN - SCOPUS:84944592955
SN - 9783319110431
T3 - Rare Diseases of the Immune System
SP - 1
EP - 12
BT - Antiphospholipid Antibody Syndrome
PB - Springer International Publishing
ER -
