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Strong Association of Combined Genetic Deficiencies in the Classical Complement Pathway With Risk of Systemic Lupus Erythematosus and Primary Sjögren's Syndrome

2022; Wiley; Volume: 74; Issue: 11 Linguagem: Inglês

10.1002/art.42270

2326-5205

Christian Lundtoft, Christopher Sjöwall, Solbritt Rantapää‐Dahlqvist, Anders Bengtsson, Andreas Jönsen, Pascal Pucholt, Yee Ling Wu, Emeli Lundström, Maija‐Leena Eloranta, Iva Gunnarsson, Eva Baecklund, Roland Jonsson, Daniel Hammenfors, Helena Forsblad‐d’Elia, Per Eriksson, Thomas Mandl, Sara Magnusson Bucher, Katrine Brække Norheim, Svein Joar Auglænd Johnsen, Roald Omdal, Marika Kvarnström, Marie Wahren‐Herlenius, Lennart Truedsson, Bo Nilsson, Sergey V. Kozyrev, Matteo Bianchi, Kerstin Lindblad‐Toh, C. Yung Yu, Gunnel Nordmark, Johanna K. Sandling, Elisabet Svenungsson, Dag Leonard, Lars Rönnblom,

Blood groups and transfusion

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 Sjögren's syndrome (SS) has not been studied systematically. This study was undertaken to investigate potential associations of heterozygous C2 deficiency and C4 copy number variation with clinical manifestations in patients with SLE and patients with primary SS.