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

Genes & Immunity volume 12, pages 626–634 (2011)Cite this article

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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.

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Authors and Affiliations

  1. Department of Clinical Immunology, Laboratory of Molecular Medicine, Rigshospitalet, Copenhagen, Denmark

    L Schejbel & P Garred

  2. Department of Laboratory Medicine, Section of Microbiology, Immunology and Glycobiology, Lund University, Lund, Sweden

    L Skattum & L Truedsson

  3. Department of Pediatric Rheumatology, Astrid Lindgrens Children's Hospital, Karolinska Universitetssjukhuset, Stockholm, Sweden

    S Hagelberg

  4. Department for Clinical Science and Education, Sachs’ Children's Hospital, Södersjukhuset, Karolinska Institutet, Stockholm, Sweden

    A Åhlin & B Schiller

  5. Department of Pediatrics, Sahlgrenska Academy, University of Gothenburg, Gothenburg, Sweden

    S Berg

  6. Department of Pediatric Immunology, Dr Behcet Uz Children's Hospital, Izmir, Turkey

    F Genel

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  1. L Schejbel
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Correspondence to L Schejbel.

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Schejbel, L., Skattum, L., Hagelberg, S. et al. Molecular basis of hereditary C1q deficiency—revisited: identification of several novel disease-causing mutations. Genes Immun 12, 626–634 (2011). https://doi.org/10.1038/gene.2011.39

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  • DOI: https://doi.org/10.1038/gene.2011.39

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