Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus

@article{Wu2009MolecularBO,
  title={Molecular basis of complete complement C4 deficiency in two North-African families with systemic lupus erythematosus},
  author={Yee Ling Wu and Georges Hauptmann and Mireille Viguier and Chack Yung Yu},
  journal={Genes and Immunity},
  year={2009},
  volume={10},
  pages={433-445}
}
Complete deficiency of complement C4 is among the strongest genetic risk factors for human systemic lupus erythematosus (SLE). C4 is a constituent of the RP–C4–CYP21–TNX (RCCX) module in the human leukocyte antigen (HLA) that exhibits inter-individual copy-number and gene-size variations. Here, we studied two North-African families with complete C4 deficiency and SLE. The first included a Moroccan male SLE patient (1P) and a sibling, who were both homozygous for HLA-A*02 B*17 DRB1*07. The… CONTINUE READING

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