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    • Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations 

      Miot, Charline; Imai, Kohsuke; Imai, Chihaya; Mancini, Anthony J.; Kucuk, Zeynep Yesim; Kawai, Tokomki; Nishikomori, Ryuta; Ito, Etsuro; Pellier, Isabelle; Girod, Sophie Dupuis; Rosain, Jeremie; Sasaki, Shinya; Chandrakasan, Shanmuganathan; Schmid, Jana Pachlopnik; Okano, Tsubasa; Colin, Estelle; Olaya-Vargas, Alberto; Yamazaki-Nakashimada, Marco; Qasim, Waseem; Espinosa Padilla, Sara; Jones, Andrea; Krol, Alfons; Cole, Nyree; Jolles, Stephen; Bleesing, Jack; Vraetz, Thomas; Gennery, Andrew R.; Abinun, Mario; Gungor, Tayfun; Costa-Carvalho, Beatriz [UNIFESP]; Condino-Neto, Antonio [UNIFESP]; Veys, Paul; Holland, Steven M.; Uzel, Gulbu; Moshous, Despina; Neven, Benedicte; Blanche, Stephane; Ehl, Stephan; Doffinger, Rainer; Patel, Smita Y.; Puel, Anne; Bustamante, Jacinta; Gelfand, Erwin W.; Casanova, Jean-Laurent; Orange, Jordan S.; Picard, Capucine (Amer Soc Hematology, 2017)
      X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor kappa B essential modulator (NEMO) protein. ...