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

van Schaarenburg R. A. , Schejbel L., Truedsson L., TOPALOĞLU R. , Al-Mayouf S. M. , Riordan A., ...More

JOURNAL OF AUTOIMMUNITY, vol.62, pp.39-44, 2015 (Journal Indexed in SCI) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 62
  • Publication Date: 2015
  • Doi Number: 10.1016/j.jaut.2015.06.002
  • Title of Journal : JOURNAL OF AUTOIMMUNITY
  • Page Numbers: pp.39-44


Objective: 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.