Back to Search Start Over

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

Authors :
Hanne Vibeke Marquart
Peter Garred
Arne Svejgaard
Lone Schejbel
Ulla Mårtensson
Anders G. Sjöholm
Anders Koch
Susan Nielsen
Source :
Clinical Immunology. 124:33-40
Publication Year :
2007
Publisher :
Elsevier BV, 2007.

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.

Details

ISSN :
15216616
Volume :
124
Database :
OpenAIRE
Journal :
Clinical Immunology
Accession number :
edsair.doi.dedup.....7a3a039a0098d90ca5e0e72325584f1d
Full Text :
https://doi.org/10.1016/j.clim.2007.03.547