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

Authors: Charline Miot, Kohsuke Imai, Chihaya Imai, Anthony J. Mancini, Zeynep Yesim Kucuk, Tokomki Kawai, Ryuta Nishikomori, Etsuro Ito, Isabelle Pellier, Sophie Dupuis‐Girod, Jérémie Rosain, Shinya Sasaki, Shanmuganathan Chandrakasan, Jana Pachlopnik Schmid, Tsubasa Okano, Estelle Colin, Alberto Olaya‐Vargas, Marco Antonio Yamazaki‐Nakashimada, Waseem Qasim, Sara Elva Espinosa‐Padilla, Andrea L. Jones, Alfons Krol, Nyree Cole, Stephen Jolles, Jack Bleesing, Thomas Vraetz, Andrew R. Gennery, Mario Abinun, Tayfun Güngör, Beatriz Tavares Costa‐Carvalho, Antônio Condino‐Neto, Paul Veys, Steven M. Holland, Gülbû Uzel, Despina Moshous, Bénédicte Neven, Stéphane Blanche, Stephan Ehl, Rainer Döffinger, Smita Y. Patel, Anne Puel, Jacinta Bustamante, Erwin W. Gelfand, Jean‐Laurent Casanova, Jordan S. Orange, Capucine Pïcard - Blood 2017 cited by 111

Key Points Global survival rate was 74% at a median follow-up after HSCT of 57 months. Preexisting mycobacterial infection and colitis were associated with poor HSCT outcome.