C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

• Published in: Clinical Immunology
• Main Authors: Marquart, Hanne Vibeke, Schejbel, Lone, Sjöholm, Anders, Mårtensson, Ulla, Nielsen, Susan, Koch, Anders, Svejgaard, Arne, Garred, Peter
• Format: Article in Journal/Newspaper
• Language: English
• Published: Elsevier 2007
• Subjects: Immunology in the medical area; autoimmunity; primary immunodeficiency; mutation; classical pathway; infections; SLE; C1q deficiency; complement; Three Sisters; inuit
• Online Access: https://lup.lub.lu.se/record/645857; https://doi.org/10.1016/j.clim.2007.03.547

C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classica...