Article
Combined heterozygous deficiency of the classical complement pathway proteins C2 and C4.
Journal of clinical immunology - 1 Mar 1997
Hartmann D, Fremeaux-Bacchi V, Weiss L, Meyer A, Blouin J, Hauptmann G, Kazatchkine M, Uring-Lambert B
Abstract excerpt
Genetic deficiencies of components of the classical pathway of complement activation are associated with an increased risk for the development of autoimmune and immune complex-mediated diseases. In the present study we report on the molecular and clinical features associated with combined heteroz...
Topics
- Adult
- Autoimmune Diseases
- Child
- Complement C2
- Complement C4
- Complement Pathway, Classical
- DNA Primers
- Female
- Haplotypes
- Humans
- Immune Complex Diseases
- Lupus Erythematosus, Systemic
- Male
- Middle Aged
- Pedigree
- Phenotype
- Polymerase Chain Reaction
- Sequence Analysis, DNA