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C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations

Marquart, Hanne Vibeke; Schejbel, Lone; Sjöholm, Anders LU ; Mårtensson, Ulla LU ; Nielsen, Susan; Koch, Anders; Svejgaard, Arne and Garred, Peter (2007) In Clinical Immunology 124(1). p.33-40
Abstract
C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classical complement activation pathway in the patients; the lectin and alternative pathways were intact. No C1q or tow molecular weight Clq was detected in sera and no anti-C1q autoantibodies were found. Sequencing of the C1q genes revealed a novel missense mutation (Gly-Arg) in codon 217 of the B chain. All sisters were homozygous for the mutation: both parents were heterozygous. None of 100 healthy controls carried the mutation. Our findings define a... (More)
C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classical complement activation pathway in the patients; the lectin and alternative pathways were intact. No C1q or tow molecular weight Clq was detected in sera and no anti-C1q autoantibodies were found. Sequencing of the C1q genes revealed a novel missense mutation (Gly-Arg) in codon 217 of the B chain. All sisters were homozygous for the mutation: both parents were heterozygous. None of 100 healthy controls carried the mutation. Our findings define a third class of molecular mechanisms behind C1q deficiency, where missense mutations cause a lack of detectable C1q-antigen in serum. (c) 2007 Elsevier Inc. ALL rights reserved. (Less)
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author
organization
publishing date
type
Contribution to journal
publication status
published
subject
keywords
autoimmunity, primary immunodeficiency, mutation, classical pathway, infections, SLE, C1q deficiency, complement
in
Clinical Immunology
volume
124
issue
1
pages
33 - 40
publisher
Elsevier
external identifiers
  • wos:000247857300007
  • scopus:34250779543
ISSN
1521-6616
DOI
10.1016/j.clim.2007.03.547
language
English
LU publication?
yes
id
9f2fcdf5-eccd-400d-ad42-5a45239579ff (old id 645857)
date added to LUP
2007-12-13 16:09:48
date last changed
2017-01-29 03:23:34
@article{9f2fcdf5-eccd-400d-ad42-5a45239579ff,
  abstract     = {C1q deficiency is a rare condition associated with a systemic lupus erythematosus (SLE)-like syndrome and recurrent infections. Here we present the molecular basis behind C1q deficiency in three sisters of Inuit origin. Initial examination for complement deficiency showed no function of the classical complement activation pathway in the patients; the lectin and alternative pathways were intact. No C1q or tow molecular weight Clq was detected in sera and no anti-C1q autoantibodies were found. Sequencing of the C1q genes revealed a novel missense mutation (Gly-Arg) in codon 217 of the B chain. All sisters were homozygous for the mutation: both parents were heterozygous. None of 100 healthy controls carried the mutation. Our findings define a third class of molecular mechanisms behind C1q deficiency, where missense mutations cause a lack of detectable C1q-antigen in serum. (c) 2007 Elsevier Inc. ALL rights reserved.},
  author       = {Marquart, Hanne Vibeke and Schejbel, Lone and Sjöholm, Anders and Mårtensson, Ulla and Nielsen, Susan and Koch, Anders and Svejgaard, Arne and Garred, Peter},
  issn         = {1521-6616},
  keyword      = {autoimmunity,primary immunodeficiency,mutation,classical pathway,infections,SLE,C1q deficiency,complement},
  language     = {eng},
  number       = {1},
  pages        = {33--40},
  publisher    = {Elsevier},
  series       = {Clinical Immunology},
  title        = {C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations},
  url          = {http://dx.doi.org/10.1016/j.clim.2007.03.547},
  volume       = {124},
  year         = {2007},
}