Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.

@article{Fuchs2015OmennSA,
  title={Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency.},
  author={Sebastian Fuchs and Anne Rensing-Ehl and Ulrich Pannicke and Myriam Ricarda Lorenz and Paul Fisch and Yogesh S Jeelall and Jan C. Rohr and Carsten Speckmann and Thomas Vraetz and Susan Farmand and Annette Schmitt-Graeff and Marcus Krueger and Brigitte Strahm and Philipp Henneke and Anselm Enders and Keisuke Horikawa and Christopher C. Goodnow and Klaus Schwarz and Stephan Ehl},
  journal={Blood},
  year={2015},
  volume={126 14},
  pages={1658-69}
}
Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of regulatory T cells are considered key factors in OS pathogenesis. We report 2 siblings presenting with cytomegalovirus (CMV) and Pneumocystis jirovecii infections and recurrent sepsis; one developed… CONTINUE READING
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Flow cytometric analysis of the Vbeta 1668 FUCHS et al BLOOD, 1 OCTOBER 2015 x VOLUME 126

  • R van den Beemd, PP Boor, EG van Lochem
  • For personal use only. on September
  • 2016
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