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

Schejbel, L.; Melander Skattum, Lillemor LU ; Hagelberg, S.; Ahlin, A.; Schiller, B.; Berg, S.; Genel, F.; Truedsson, Lennart LU and Garred, P. (2011) In Genes and Immunity 12(8). p.626-634
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... (More)
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. Genes and Immunity (2011) 12, 626-634; doi:10.1038/gene.2011.39; published online 9 June 2011 (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
C1q deficiency, mutation, SLE, glomerulonephritis, bacterial infection, sepsis
in
Genes and Immunity
volume
12
issue
8
pages
626 - 634
publisher
Nature Publishing Group
external identifiers
  • wos:000297928300004
  • scopus:82555194114
ISSN
1476-5470
DOI
10.1038/gene.2011.39
language
English
LU publication?
yes
id
d72d8144-02d4-458c-9680-1e07adf0646c (old id 2279307)
date added to LUP
2012-01-11 15:26:33
date last changed
2017-09-24 03:11:08
@article{d72d8144-02d4-458c-9680-1e07adf0646c,
  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. Genes and Immunity (2011) 12, 626-634; doi:10.1038/gene.2011.39; published online 9 June 2011},
  author       = {Schejbel, L. and Melander Skattum, Lillemor and Hagelberg, S. and Ahlin, A. and Schiller, B. and Berg, S. and Genel, F. and Truedsson, Lennart and Garred, P.},
  issn         = {1476-5470},
  keyword      = {C1q deficiency,mutation,SLE,glomerulonephritis,bacterial infection,sepsis},
  language     = {eng},
  number       = {8},
  pages        = {626--634},
  publisher    = {Nature Publishing Group},
  series       = {Genes and Immunity},
  title        = {Molecular basis of hereditary C1q deficiency-revisited: identification of several novel disease-causing mutations},
  url          = {http://dx.doi.org/10.1038/gene.2011.39},
  volume       = {12},
  year         = {2011},
}