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hypohidrotic ectodermal dysplasia
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Journal Articles

Frequent somatic mosaicism of NEMO in T cells of patients with X-linked anhidrotic ectodermal dysplasia with immunodeficiency

Tomoki Kawai, Ryuta Nishikomori, Kazushi Izawa, Yuuki Murata, Naoko Tanaka, Hidemasa Sakai, Megumu Saito, Takahiro Yasumi, Yuki Takaoka, Tatsutoshi Nakahata, Tomoyuki Mizukami, Hiroyuki Nunoi, Yuki Kiyohara, Atsushi Yoden, Takuji Murata, Shinya Sasaki, Etsuro Ito, Hiroshi Akutagawa, Toshinao Kawai, Chihaya Imai, Satoshi Okada, Masao Kobayashi, Toshio Heike
Journal: Blood
Blood (2012) 119 (23): 5458–5466.
https://doi.org/10.1182/blood-2011-05-354167
Published: 2012
Includes: Supplemental data
Journal Articles

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO protein

Marjorie Hubeau, Flora Ngadjeua, Anne Puel, Laura Israel, Jacqueline Feinberg, Maya Chrabieh, Kiran Belani, Christine Bodemer, Isabelle Fabre, Alessandro Plebani, Stéphanie Boisson-Dupuis, Capucine Picard, Alain Fischer, Alain Israel, Laurent Abel, Michel Veron, Jean-Laurent Casanova, Fabrice Agou, Jacinta Bustamante
Journal: Blood
Blood (2011) 118 (4): 926–935.
https://doi.org/10.1182/blood-2010-10-315234
Published: 2011
Includes: Supplemental data
Journal Articles

Nuclear factor-κB is not essential for NADPH oxidase activity in neutrophils from anhidrotic ectodermal dysplasia patients

Bram J. van Raam, Robin van Bruggen, Anton T. J. Tool, Machiel H. Jansen, Adilia Warris, Stephen Jolles, Taco W. Kuijpers
Journal: Blood
Blood (2009) 113 (21): 5362–5363.
https://doi.org/10.1182/blood-2009-02-203562
Published: 2009
Journal Articles

Essential role of nuclear factor-κB for NADPH oxidase activity in normal and anhidrotic ectodermal dysplasia leukocytes

Marcos Luengo-Blanco, Carolina Prando, Jacinta Bustamante, Walmir Cutrim Aragão-Filho, Paulo Vitor Soeiro Pereira, Jussara Rehder, Carolyn Padden, Jean-Laurent Casanova, Peter E. Newburger, Antonio Condino-Neto
Journal: Blood
Blood (2008) 112 (4): 1453–1460.
https://doi.org/10.1182/blood-2007-07-099267
Published: 2008
Includes: Supplemental data
Journal Articles

Correction of Immunodeficiency Associated with NEMO Mutation by Umbilical Cord Stem Cell Transplantation Using a Reduced-Intensity Conditioning Regimen.

Chikako Tono, MD, PhD, Yoshihiro Takahashi, MD, PhD, Kiminori Terui, MD, PhD, Shinya Sasaki, MD, PhD, Takuya Kamio, MD, PhD, Satoru Tandai, MD, PhD, Tomohiko Sato, MD, Ko Kudo, MD, Tsutomu Toki, PhD, Naoki Tachibana, MD, PhD, Takakazu Yoshioka, MD, PhD, Tatsutoshi Nakahata, MD, PhD, Tomohiro Morio, MD, PhD, Ryuta Nishikomori, MD, PhD, Etsuro Ito, MD, PhD
Journal: Blood
Blood (2006) 108 (11): 5392.
https://doi.org/10.1182/blood.V108.11.5392.5392
Published: 2006
Journal Articles

Fetal liver stroma consists of cells in epithelial-to-mesenchymal transition

Jalila Chagraoui, Adeline Lepage-Noll, Aurora Anjo, Georges Uzan, Pierre Charbord
Journal: Blood
Blood (2003) 101 (8): 2973–2982.
https://doi.org/10.1182/blood-2002-05-1341
Published: 2003