title: Molecular basis of hereditary C1q deficiency--revisited: identification of several novel disease-causing mutations.
abstract: 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.
authors.affiliation: Department of Clinical Immunology, Laboratory of Molecular Medicine, Rigshospitalet, Copenhagen, Denmark. l.schejbel@gmail.com
authors.forename: L
authors.initials: L
authors.lastname: Schejbel
authors.forename: L
authors.initials: L
authors.lastname: Skattum
authors.forename: S
authors.initials: S
authors.lastname: Hagelberg
authors.forename: A
authors.initials: A
authors.lastname: Åhlin
authors.forename: B
authors.initials: B
authors.lastname: Schiller
authors.forename: S
authors.initials: S
authors.lastname: Berg
authors.forename: F
authors.initials: F
authors.lastname: Genel
authors.forename: L
authors.initials: L
authors.lastname: Truedsson
authors.forename: P
authors.initials: P
authors.lastname: Garred
mesh_terms: D019943:Amino Acid Substitution; D002648:Child; D002675:Child, Preschool; D015922:Complement C1q / Q000172:deficiency* / Q000235:genetics*; D005260:Female; D030342:Genetic Diseases, Inborn / Q000175:diagnosis; D005838:Genotype; D006801:Humans; D008297:Male; D009154:Mutation; D010375:Pedigree
chemical_list: D015922:Complement C1q