Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations

Summary, in English

C1q is the central pattern-recognition molecule in the classical pathway of the complement system and is known to have a key role in the crossroads between adaptive and innate immunity. Hereditary C1q deficiency is a rare genetic condition strongly associated with systemic lupus erythematosus and increased susceptibility to bacterial infections. However, the clinical symptoms may vary. For long, the molecular basis of C1q deficiency was ascribed to only six different mutations. In the present report, we describe five new patients with C1q deficiency, present the 12 causative mutations described till now and review the clinical spectrum of symptoms found in patients with C1q deficiency. With the results presented here, confirmed C1q deficiency is reported in 64 patients from at least 38 families. Genes and Immunity (2011) 12, 626-634; doi:10.1038/gene.2011.39; published online 9 June 2011

• Author: L. Schejbel; Lillemor Melander Skattum; S. Hagelberg; A. Ahlin; B. Schiller; S. Berg; F. Genel; Lennart Truedsson; P. Garred
• Department/s: Division of Microbiology, Immunology and Glycobiology - MIG
• Publishing year: 2011
• Language: English
• Pages: 626-634
• Publication/Series: Genes and Immunity
• Volume: 12
• Issue: 8
• Full text: - 803 kB; Download statistics
• Links: http://dx.doi.org/10.1038/gene.2011.39
• Document type: Journal article
• Publisher: Nature Publishing Group
• Topic: Immunology in the medical area
• Keywords: C1q deficiency; mutation; SLE; glomerulonephritis; bacterial infection; sepsis
• Status: Published
• ISBN/ISSN/Other: ISSN: 1476-5470