Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.

@article{Lohr2010HumanIE,
  title={Human ITCH E3 ubiquitin ligase deficiency causes syndromic multisystem autoimmune disease.},
  author={Naomi J Lohr and Jean Pappas Molleston and Kevin A Strauss and Wilfredo Torres-Martinez and Eric A. Sherman and Robert H. Squires and Nicholas L Rider and Kudakwashe R. Chikwava and O William Cummings and D. Holmes Morton and Erik G Puffenberger},
  journal={American journal of human genetics},
  year={2010},
  volume={86 3},
  pages={447-53}
}
Ubiquitin ligases play an important role in the regulation of the immune system. Absence of Itch E3 ubiquitin ligase in mice has been shown to cause severe autoimmune disease. Using autozygosity mapping in a large Amish kindred, we identified a linkage region on chromosome 20 and selected candidate genes for screening. We describe, in ten patients, identification of a mutation resulting in truncation of ITCH. These patients represent the first reported human phenotype associated with ITCH… CONTINUE READING

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