Literature DB >> 25068423

Successful hematopoietic cell transplantation in patients with unique NF-κB essential modulator (NEMO) mutations.

J K Abbott1, R R Quinones2, M T de la Morena3, E W Gelfand1.   

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Year:  2014        PMID： 25068423     DOI： 10.1038/bmt.2014.157

Source DB:  PubMed          Journal:  Bone Marrow Transplant        ISSN： 0268-3369            Impact factor:   5.483


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  11 in total

1.  Disseminated BCG infection mimicking metastatic nasopharyngeal carcinoma in an immunodeficient child with a novel hypomorphic NEMO mutation.

Authors:  Masaru Imamura; Tomoki Kawai; Satoshi Okada; Kazushi Izawa; Takayuki Takachi; Haruko Iwabuchi; Sakiko Yoshida; Ryosuke Hosokai; Hirokazu Kanegane; Tatsuo Yamamoto; Hajime Umezu; Ryuta Nishikomori; Toshio Heike; Makoto Uchiyama; Chihaya Imai
Journal:  J Clin Immunol       Date:  2011-07-14       Impact factor: 8.317

2.  Correction of immunodeficiency associated with NEMO mutation by umbilical cord blood transplantation using a reduced-intensity conditioning regimen.

Authors:  C Tono; Y Takahashi; K Terui; S Sasaki; T Kamio; S Tandai; T Sato; K Kudo; T Toki; N Tachibana; T Yoshioka; T Nakahata; T Morio; R Nishikomori; E Ito
Journal:  Bone Marrow Transplant       Date:  2007-04-09       Impact factor: 5.483

3.  A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.

Authors:  Gene A Devora; Lijun Sun; Zhijian Chen; Nicolai S C van Oers; Eric P Hanson; Jordan S Orange; M Teresa de la Morena
Journal:  J Clin Immunol       Date:  2010-07-23       Impact factor: 8.317

4.  Osteopetrosis, lymphedema, anhidrotic ectodermal dysplasia, and immunodeficiency in a boy and incontinentia pigmenti in his mother.

Authors:  Sophie Dupuis-Girod; Nadège Corradini; Smail Hadj-Rabia; Jean-Christophe Fournet; Laurence Faivre; Françoise Le Deist; Philippe Durand; Rainer Döffinger; Asma Smahi; Alain Israel; Gilles Courtois; Nicole Brousse; Stéphane Blanche; Arnold Munnich; Alain Fischer; Jean-Laurent Casanova; Christine Bodemer
Journal:  Pediatrics       Date:  2002-06       Impact factor: 7.124

5.  Allogeneic transplantation successfully corrects immune defects, but not susceptibility to colitis, in a patient with nuclear factor-kappaB essential modulator deficiency.

Authors:  Sung-Yun Pai; Ofer Levy; Haifa H Jabara; Jonathan N Glickman; Liat Stoler-Barak; Jessica Sachs; Samuel Nurko; Jordan S Orange; Raif S Geha
Journal:  J Allergy Clin Immunol       Date:  2008-10-11       Impact factor: 10.793

6.  X-linked ectodermal dysplasia with immunodeficiency caused by NEMO mutation: early recognition and diagnosis.

Authors:  Anthony J Mancini; Leslie P Lawley; Gulbu Uzel
Journal:  Arch Dermatol       Date:  2008-03

7.  Challenges in the use of allogeneic hematopoietic SCT for ectodermal dysplasia with immune deficiency.

Authors:  J D Fish; R E Duerst; E W Gelfand; J S Orange; N Bunin
Journal:  Bone Marrow Transplant       Date:  2008-09-15       Impact factor: 5.483

Review 8.  Allogeneic hematopoietic stem cell transplantation for X-linked ectodermal dysplasia and immunodeficiency: case report and review of outcomes.

Authors:  Perdita Permaul; Anupama Narla; Jason L Hornick; Sung-Yun Pai
Journal:  Immunol Res       Date:  2009       Impact factor: 2.829

9.  IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.

Authors:  Bryn H Salt; Julie E Niemela; Rahul Pandey; Eric P Hanson; Raquel P Deering; Ralph Quinones; Ashish Jain; Jordan S Orange; Erwin W Gelfand
Journal:  J Allergy Clin Immunol       Date:  2008-01-07       Impact factor: 10.793

10.  Epithelial NEMO links innate immunity to chronic intestinal inflammation.

Authors:  Arianna Nenci; Christoph Becker; Andy Wullaert; Ralph Gareus; Geert van Loo; Silvio Danese; Marion Huth; Alexei Nikolaev; Clemens Neufert; Blair Madison; Deborah Gumucio; Markus F Neurath; Manolis Pasparakis
Journal:  Nature       Date:  2007-03-14       Impact factor: 49.962
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  4 in total

Review 1.  Toll-like receptor signaling in primary immune deficiencies.

Authors:  Paul J Maglione; Noa Simchoni; Charlotte Cunningham-Rundles
Journal:  Ann N Y Acad Sci       Date:  2015-04-30       Impact factor: 5.691

2.  T Cell Impairment Is Predictive for a Severe Clinical Course in NEMO Deficiency.

Authors:  Stephanie Heller; Uwe Kölsch; Thomas Magg; Renate Krüger; Andrea Scheuern; Holm Schneider; Anna Eichinger; Volker Wahn; Nadine Unterwalder; Myriam Lorenz; Klaus Schwarz; Christian Meisel; Ansgar Schulz; Fabian Hauck; Horst von Bernuth
Journal:  J Clin Immunol       Date:  2020-01-21       Impact factor: 8.317

3.  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; Jeremie Rosain; Shinya Sasaki; Shanmuganathan Chandrakasan; Jana Pachlopnik Schmid; Tsubasa Okano; Estelle Colin; Alberto Olaya-Vargas; Marco Yamazaki-Nakashimada; Waseem Qasim; Sara Espinosa Padilla; Andrea Jones; Alfons Krol; Nyree Cole; Stephen Jolles; Jack Bleesing; Thomas Vraetz; Andrew R Gennery; Mario Abinun; Tayfun Güngör; Beatriz Costa-Carvalho; Antonio Condino-Neto; Paul Veys; Steven M Holland; Gulbu Uzel; Despina Moshous; Benedicte Neven; Stéphane Blanche; Stephan Ehl; Rainer Döffinger; Smita Y Patel; Anne Puel; Jacinta Bustamante; Erwin W Gelfand; Jean-Laurent Casanova; Jordan S Orange; Capucine Picard
Journal:  Blood       Date:  2017-07-05       Impact factor: 22.113

4.  Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency.

Authors:  Christian Klemann; Ulrich Pannicke; Deborah J Morris-Rosendahl; Katerina Vlantis; Marta Rizzi; Holm Uhlig; Thomas Vraetz; Carsten Speckmann; Brigitte Strahm; Manolis Pasparakis; Klaus Schwarz; Stephan Ehl; Jan C Rohr
Journal:  Clin Immunol       Date:  2016-01-23       Impact factor: 3.969
  4 in total

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