Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency.

Summary, in English

Globally approximately 60 cases of C1q deficiency have been described with a high prevalence of Systemic Lupus Erythematosus (SLE). So far treatment has been guided by the clinical presentation rather than the underlying C1q deficiency. Recently, it was shown that C1q production can be restored by allogeneic hematopoietic stem cell transplantation. Current literature lacks information on disease progression and quality of life of C1q deficient persons which is of major importance to guide clinicians taking care of patients with this rare disease.

• Author: Rosanne A van Schaarenburg; Lone Schejbel; Lennart Truedsson; Rezan Topaloglu; Sulaiman M Al-Mayouf; Andrew Riordan; Anna Simon; Maryam Kallel-Sellami; Peter D Arkwright; Anders Åhlin; Stefan Hagelberg; Susan Nielsen; Alexander Shayesteh; Adelaida Morales; Schuman Tam; Ferah Genel; Stefan Berg; Arnoldus G Ketel; J Merlijn van den Berg; Taco W Kuijpers; Richard F Olsson; Tom W J Huizinga; Arjan C Lankester; Leendert A Trouw
• Department/s: Division of Microbiology, Immunology and Glycobiology - MIG
• Publishing year: 2015
• Language: English
• Pages: 39-44
• Publication/Series: Journal of Autoimmunity
• Volume: 62
• Issue: Jun 25
• Links: http://www.ncbi.nlm.nih.gov/pubmed/26119135?dopt=Abstract; http://dx.doi.org/10.1016/j.jaut.2015.06.002
• Document type: Journal article
• Publisher: Elsevier
• Topic: Immunology in the medical area
• Status: Published
• ISBN/ISSN/Other: ISSN: 0896-8411