Thirty-eight of 47 patients with autosomal-recessive hyper-IgE syndrome carry deletions and point mutations in Dock8

Engelhardt, K.R.; Mcghee, S.; Winkler, S.; Graham, L.; Sassi, A.; Woellner, C.; Lopez Herrera, G.; Chen, A.; Sook Kim, H.; Garcia Lloret, M.; Schulze, I.; Ehl, S.; Thiel, J.; Pfeifer, D.; Veelken, H.; Niehues, T.; Siepermann, K.; Weinspach, S.; Reisli, I.; Keles, S.; Genel, F.; Kutukculer, N.; Camcioglu, Y.; Somer, A.; Karakoc Aydiner, E.; Barlan, I.; Gennery, A.; Metin, A.; Degerliyurt, A.; Pietrogrande, M.C.; Yeganeh, M.; Baz, Z.; Al Tamemi, S.; Klein, C.; Sebnem Kilic, S.; Plebani, A.; Badolato, R.; Al Herz, W.; Lefranc, G.; Megarbane, A.; Boutros, J.; Galal, N.; El Marsafi, A.; Schneider, L.; Mcdonald, D.R.; Wakim, R.; Dbaibo, G.; Dasouki, M.; Geha, R.S.; Arkwright, P.D.; Puck, J.M.; Holland, S.M.; Mccabe, E.R.B.; Chatila, T.A.; Grimbacher, B.

Thirty-eight of 47 patients with autosomal-recessive hyper-IgE syndrome carry deletions and point mutations in Dock8 / K.R. Engelhardt, S. Mcghee, S. Winkler, L. Graham, A. Sassi, C. Woellner, G. Lopez Herrera, A. Chen, H. Sook Kim, M. Garcia Lloret, I. Schulze, S. Ehl, J. Thiel, D. Pfeifer, H. Veelken, T. Niehues, K. Siepermann, S. Weinspach, I. Reisli, S. Keles, F. Genel, N. Kutukculer, Y. Camcioglu, A. Somer, E. Karakoc Aydiner, I. Barlan, A. Gennery, A. Metin, A. Degerliyurt, M.C. Pietrogrande, M. Yeganeh, Z. Baz, S. Al Tamemi, C. Klein, S. Sebnem Kilic, A. Plebani, R. Badolato, W. Al Herz, G. Lefranc, A. Megarbane, J. Boutros, N. Galal, A. El Marsafi, L. Schneider, D.R. Mcdonald, R. Wakim, G. Dbaibo, M. Dasouki, R.S. Geha, P.D. Arkwright, J.M. Puck, S.M. Holland, E.R.B. Mccabe, T.A. Chatila, B. Grimbacher. ((Intervento presentato al 14. convegno Meeting of the European Society for Immunodeficiencies (ESID) tenutosi a Istanbul nel 2010.