• Complement C4 Copy Number Variation is Linked to SSA/Ro and SSB/La Autoantibodies in Systemic Inflammatory Autoimmune Diseases 

      Lundtoft, Christian; Pucholt, Pascal; Martin, Myriam; Bianchi, Matteo; Lundström, Emeli; Eloranta, Maija-Leena; Sandling, Johanna K.; Sjöwall, Christopher; Jönsen, Andreas; Gunnarsson, Iva; Rantapää-Dahlqvist, Solbritt; Bengtsson, Anders A.; Leonard, Dag; Baecklund, Eva; Jonsson, Roland; Hammenfors, Daniel; Forsblad-d'Elia, Helena; Eriksson, Per; Mandl, Thomas; Magnusson Bucher, Sara; Norheim, Katrine Brække; Johnsen, Svein Joar Auglæn; Omdal, Roald; Kvarnström, Marika; Wahren Herlenius, Marie Elisabeth; Notarnicola, Antonella; Andersson, Anna Helena; Molberg, Øyvind; Diederichsen, Louise Pyndt; Almlöf, Jonas; Syvänen, Ann-Christine; Kozyrev, Sergey V.; Lindblad-Toh, Kerstin; Rönnblom, Lars; Brokstad, Karl Albert; Skarstein, Kathrine; Jonsson, Malin Viktoria; Appel, Silke; Aqrawi, Lara A.; Jensen, Janicke Liaaen; Palm, Øyvind; Nilsson, Birgitta Blakstad; Blom, Anna M.; Lundberg, Ingrid E.; Nordmark, Gunnel; Diaz-Gallo, Lina Marcela; Svenungsson, Elisabet; Rönnblom, Lars (Journal article; Peer reviewed, 2022)
      Objective Copy number variation of the C4 complement components, C4A and C4B, has been associated with systemic inflammatory autoimmune diseases. This study was undertaken to investigate whether C4 copy number variation ...
    • Molecular pathways in patients with systemic lupus erythematosus revealed by gene-centred DNA sequencing 

      Sandling, Johanna K.; Pucholt, Pascal; Hultin Rosenberg, Lina; Farias, Fabiana H.G.; Kozyrev, Sergey V.; Eloranta, Maija-Leena; Alexsson, Andrei; Bianchi, Matteo; Padyukov, Leonid; Bengtsson, Christine; Jonsson, Roland; Omdal, Roald; Lie, Benedicte Alexandra; Massarenti, Laura; Steffensen, Rudi; Jakobsen, Marianne A.; Lillevang, Søren T.; Lerang, Karoline; Molberg, Øyvind; Voss, Anne; Troldborg, Anne; Jacobsen, Søren; Syvänen, Ann-Christine; Jönsen, Andreas; Gunnarsson, Iva; Svenungsson, Elisabet; Rantapää-Dahlqvist, Solbritt; Bengtsson, Anders A.; Sjöwall, Christopher; Leonard, Dag; Lindblad-Toh, Kerstin; Rönnblom, Lars (Journal article, 2021)
      Objectives Systemic lupus erythematosus (SLE) is an autoimmune disease with extensive heterogeneity in disease presentation between patients, which is likely due to an underlying molecular diversity. Here, we aimed at ...
    • Strong association of combined genetic deficiencies in the classical complement pathway with risk of systemic lupus erythematosus and primary Sjögren's syndrome 

      Lundtoft, Christian; Sjöwall, Christopher; Rantapää-Dahlqvist, Solbritt; Bengtsson, Anders A.; Jönsen, Andreas; Pucholt, Pascal; Wu, Yee Ling; Lundström, Emeli; Eloranta, Maija-Leena; Gunnarsson, Iva; Baecklund, Eva; Jonsson, Roland; Hammenfors, Daniel; Forsblad-d'Elia, Helena; Eriksson, Per; Mandl, Thomas; Bucher, Sara; Norheim, Katrine Brække; Johnsen, Svein Joar Auglæn; Omdal, Roald; Kvarnström, Marika; Wahren Herlenius, Marie Elisabeth; Truedsson, Lennart; Nilsson, Bo; Kozyrev, Sergey V.; Bianchi, Matteo; Lindblad-Toh, Kerstin; Yu, Chack-Yung; Nordmark, Gunnel; Sandling, Johanna K.; Svenungsson, Elisabet; Leonard, Dag; Rönnblom, Lars (Journal article; Peer reviewed, 2022)
      Objective Complete genetic deficiency of the complement component C2 is a strong risk factor for monogenic systemic lupus erythematosus (SLE), but whether heterozygous C2 deficiency adds to the risk of SLE or primary ...