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

van Schaarenburg, Rosanne; Schejbel, Lone; Truedsson, Lennart; TOPALOĞLU, REZAN; Al-Mayouf, Sulaiman; Riordan, Andrew; Simon, Anna; Kallel-Sellami, Maryam; Arkwright, Peter; Ahlin, Anders; Hagelberg, Stefan; Nielsen, Susan; Shayesteh, Alexander; Morales, Adelaida; Tam, Schuman; Genel, Ferah; Berg, Stefan; Ketel, Arnoldus; van den Berg, J.; Kuijpers, Taco; Olsson, Richard; Huizinga, Tom; Lankester, Arjan; Trouw, Leendert

doi:10.1016/j.jaut.2015.06.002

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

Copy For Citation

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 (SCI-Expanded)

Publication Type: Article / Article
Volume: 62
Publication Date: 2015
Doi Number: 10.1016/j.jaut.2015.06.002
Journal Name: JOURNAL OF AUTOIMMUNITY
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.39-44
Hacettepe University Affiliated: Yes

Abstract

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.