Back to Search
Start Over
C1q deficiency in an Inuit family: Identification of a new class of C1q disease-causing mutations
- 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.
- Subjects :
- Adolescent
Greenland
Immunology
Glycine
Mutation, Missense
chemical and pharmacologic phenomena
Arginine
medicine.disease_cause
Complement Hemolytic Activity Assay
Autoimmunity
Consanguinity
Classical complement pathway
immune system diseases
medicine
Humans
Lupus Erythematosus, Systemic
Point Mutation
Immunology and Allergy
Missense mutation
Child
skin and connective tissue diseases
Complement C1q
Mutation
Sequence Homology, Amino Acid
business.industry
Siblings
Homozygote
Complement deficiency
medicine.disease
Pedigree
Complement system
Inuit
Child, Preschool
Primary immunodeficiency
Female
business
Subjects
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