A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.

@article{Marrella2007AHR,
  title={A hypomorphic R229Q Rag2 mouse mutant recapitulates human Omenn syndrome.},
  author={Veronica Marrella and Pietro Luigi Poliani and Anna Casati and Francesca Rucci and Laura Frascoli and M L Gougeon and Brigitte Lemercier and Marita Bosticardo and Maria Ravanini and Manuela Battaglia and Maria Grazia Roncarolo and Marina Cavazzana-Calvo and Fabio F. Facchetti and Luigi D Notarangelo and Paolo Vezzoni and Fabio Grassi and Anna Villa},
  journal={The Journal of clinical investigation},
  year={2007},
  volume={117 5},
  pages={1260-9}
}
Rag enzymes are the main players in V(D)J recombination, the process responsible for rearrangement of TCR and Ig genes. Hypomorphic Rag mutations in humans, which maintain partial V(D)J activity, cause a peculiar SCID associated with autoimmune-like manifestations, Omenn syndrome (OS). Although a deficient ability to sustain thymopoiesis and to produce a… CONTINUE READING