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

van Schaarenburg, Rosanne A; Schejbel, Lone; Truedsson, Lennart LU ; Topaloglu, Rezan; Al-Mayouf, Sulaiman M; Riordan, Andrew; Simon, Anna; Kallel-Sellami, Maryam; Arkwright, Peter D and Åhlin, Anders, et al. (2015) In Journal of Autoimmunity 62(Jun 25). p.39-44
Abstract
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.
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Contribution to journal
publication status
published
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in
Journal of Autoimmunity
volume
62
issue
Jun 25
pages
39 - 44
publisher
Elsevier
external identifiers
  • pmid:26119135
  • wos:000359875600005
  • scopus:84939568380
ISSN
0896-8411
DOI
10.1016/j.jaut.2015.06.002
language
English
LU publication?
yes
id
95c22ec9-523d-457b-b0c2-fb8c6fbe9f01 (old id 7477554)
alternative location
http://www.ncbi.nlm.nih.gov/pubmed/26119135?dopt=Abstract
date added to LUP
2015-07-11 09:53:03
date last changed
2017-10-01 03:27:48
@article{95c22ec9-523d-457b-b0c2-fb8c6fbe9f01,
  abstract     = {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       = {van Schaarenburg, Rosanne A and Schejbel, Lone and Truedsson, Lennart and Topaloglu, Rezan and Al-Mayouf, Sulaiman M and Riordan, Andrew and Simon, Anna and Kallel-Sellami, Maryam and Arkwright, Peter D and Åhlin, Anders and Hagelberg, Stefan and Nielsen, Susan and Shayesteh, Alexander and Morales, Adelaida and Tam, Schuman and Genel, Ferah and Berg, Stefan and Ketel, Arnoldus G and Merlijn van den Berg, J and Kuijpers, Taco W and Olsson, Richard F and Huizinga, Tom W J and Lankester, Arjan C and Trouw, Leendert A},
  issn         = {0896-8411},
  language     = {eng},
  number       = {Jun 25},
  pages        = {39--44},
  publisher    = {Elsevier},
  series       = {Journal of Autoimmunity},
  title        = {Marked variability in clinical presentation and outcome of patients with C1q immunodeficiency.},
  url          = {http://dx.doi.org/10.1016/j.jaut.2015.06.002},
  volume       = {62},
  year         = {2015},
}