A Guffroy, L Jacquel, Y Seeleuthner, N Paul, V Poindron, F Maurier, V Delannoy, A C Voegeli, P Zhang, B Nespola, A Molitor, M J Apithy, P Soulas-Sprauel, T Martin, R E Voll, S Bahram, V Gies, J L Casanova, A Cobat, B Boisson, R Carapito, A S Korganow
Primary antiphospholipid syndrome is characterized by thrombosis and autoantibodies directed against phospholipids or associated proteins. The genetic etiology of PAPS remains unknown. We enrolled 21 patients with thromboembolic events associated to lupus anticoagulant, anticardiolipin and anti β2 glycoprotein1 autoantibodies. We performed whole exome sequencing. Data were compared to public databases and to a control cohort of 873 non-autoimmune patients. We performed whole exome sequencing and a systematic variant-based analysis in genes associated with thrombosis, in candidate genes previously associated with APS or inborn errors of immunity...
January 24, 2024: Genes and Immunity