Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains

@article{Pickering2007SpontaneousHU,
  title={Spontaneous hemolytic uremic syndrome triggered by complement factor H lacking surface recognition domains},
  author={Matthew C Pickering and Elena Goicoechea de Jorge and Rub{\'e}n Mart{\'i}nez-Barricarte and Sergio Recalde and Alfredo Garc{\'i}a-Layana and Kirsten L. Rose and Jill Moss and Mark J. Walport and H Terence Cook and Santiago Rodr{\'i}guez de C{\'o}rdoba and Marina Botto},
  journal={The Journal of Experimental Medicine},
  year={2007},
  volume={204},
  pages={1249 - 1256}
}
Factor H (FH) is an abundant serum glycoprotein that regulates the alternative pathway of complement-preventing uncontrolled plasma C3 activation and nonspecific damage to host tissues. Age-related macular degeneration (AMD), atypical hemolytic uremic syndrome (aHUS), and membranoproliferative glomerulonephritis type II (MPGN2) are associated with polymorphisms or mutations in the FH gene (Cfh), suggesting the existence of a genotype-phenotype relationship. Although AMD and MPGN2 share… CONTINUE READING
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