Article
Hematopoietic stem cell transplantation in 29 patients hemizygous for hypomorphic IKBKG/NEMO mutations.
Blood - 21 Sept 2017
Miot Charline, Imai Kohsuke, Imai Chihaya, Mancini Anthony J, Kucuk Zeynep Yesim, Kawai Tokomki, Nishikomori Ryuta, Ito Etsuro, Pellier Isabelle, Dupuis Girod Sophie, Rosain Jeremie, Sasaki Shinya, Chandrakasan Shanmuganathan, Pachlopnik Schmid Jana, 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, Güngör Tayfun, Costa-Carvalho Beatriz, Condino-Neto Antonio, Veys Paul, Holland Steven M, Uzel Gulbu, Moshous Despina, Neven Benedicte, Blanche Stéphane, Ehl Stephan, Döffinger Rainer, Patel Smita Y, Puel Anne, Bustamante Jacinta, Gelfand Erwin W, Casanova Jean-Laurent, Orange Jordan S, Picard Capucine
Abstract excerpt
X-linked recessive ectodermal dysplasia with immunodeficiency is a rare primary immunodeficiency caused by hypomorphic mutations of the IKBKG gene encoding the nuclear factor κB essential modulator (NEMO) protein. This condition displays enormous allelic, immunological, and clinical heterogeneity, and therapeutic decisions are difficult because NEMO operates in both hematopoietic and nonhematopoietic cells....
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.