AIRE deficiency in thymus of 2 patients with Omenn syndrome.

@article{Cavadini2005AIREDI,
  title={AIRE deficiency in thymus of 2 patients with Omenn syndrome.},
  author={Patrizia Cavadini and William Vermi and Fabio Facchetti and Stefania Fontana and Seiho Nagafuchi and Evelina Mazzolari and Anna {\vS}ediv{\'a} and Veronica Marrella and Anna Villa and Alain Fischer and Luigi D Notarangelo and Raffaele Badolato},
  journal={The Journal of clinical investigation},
  year={2005},
  volume={115 3},
  pages={
          728-32
        }
}
Omenn syndrome is a severe primary immunodeficiency with putative autoimmune manifestations of the skin and gastrointestinal tract. The disease is caused by hypomorphic mutations in recombination-activating genes that impair but do not abolish the process of VDJ recombination, leading to the generation of autoreactive T cells with a highly restricted receptor repertoire. Loss of central tolerance in genetically determined autoimmune diseases, e.g., autoimmune polyendocrinopathy-candidiasis… CONTINUE READING

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