Literature DB >> 33598805

EDA-ID: a Severe Clinical Presentation Associated with a New IKBKG Mutation.

Antony Ceraulo1, Marie Ouachée-Chardin1, Coline Bret Puvilland2, Bertrand Boisson3,4,5, Mathieu Fusaro3,6, Jacinta Bustamante3,4,5,6, Yves Bertrand1.   

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Year:  2021        PMID： 33598805      PMCID： PMC8254782          DOI： 10.1007/s10875-021-00992-x

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.542


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  8 in total

1.  Adoptive cellular therapy for early cytomegalovirus infection after allogeneic stem-cell transplantation with virus-specific T-cell lines.

Authors:  Karl S Peggs; Stephanie Verfuerth; Arnold Pizzey; Naeem Khan; Malcolm Guiver; Paul A Moss; Stephen Mackinnon
Journal:  Lancet       Date:  2003-10-25       Impact factor: 79.321

2.  X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling.

Authors:  R Döffinger; A Smahi; C Bessia; F Geissmann; J Feinberg; A Durandy; C Bodemer; S Kenwrick; S Dupuis-Girod; S Blanche; P Wood; S H Rabia; D J Headon; P A Overbeek; F Le Deist; S M Holland; K Belani; D S Kumararatne; A Fischer; R Shapiro; M E Conley; E Reimund; H Kalhoff; M Abinun; A Munnich; A Israël; G Courtois; J L Casanova
Journal:  Nat Genet       Date:  2001-03       Impact factor: 38.330

3.  Co-occurrence of incontinentia pigmenti and down syndrome: examining patients' potential susceptibility to autoimmune disease, autoinflammatory disease, cancer, and significant ocular disease.

Authors:  David C Gibson; Natario L Couser; Kayla B King
Journal:  Ophthalmic Genet       Date:  2020-10-28       Impact factor: 1.803

4.  Rescue of recurrent deep intronic mutation underlying cell type-dependent quantitative NEMO deficiency.

Authors:  Bertrand Boisson; Yoshitaka Honda; Masahiko Ajiro; Jacinta Bustamante; Matthieu Bendavid; Andrew R Gennery; Yuri Kawasaki; Jose Ichishima; Mitsujiro Osawa; Hiroshi Nihira; Takeshi Shiba; Takayuki Tanaka; Maya Chrabieh; Benedetta Bigio; Hong Hur; Yuval Itan; Yupu Liang; Satoshi Okada; Kazushi Izawa; Ryuta Nishikomori; Osamu Ohara; Toshio Heike; Laurent Abel; Anne Puel; Megumu K Saito; Jean-Laurent Casanova; Masatoshi Hagiwara; Takahiro Yasumi
Journal:  J Clin Invest       Date:  2018-12-18       Impact factor: 14.808

5.  Hypomorphic nuclear factor-kappaB essential modulator mutation database and reconstitution system identifies phenotypic and immunologic diversity.

Authors:  Eric P Hanson; Linda Monaco-Shawver; Laura A Solt; Lisa A Madge; Pinaki P Banerjee; Michael J May; Jordan S Orange
Journal:  J Allergy Clin Immunol       Date:  2008-10-11       Impact factor: 10.793

Review 6.  EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.

Authors:  Francesca Fusco; Alessandra Pescatore; Matilde Immacolata Conte; Peppino Mirabelli; Mariateresa Paciolla; Elio Esposito; Maria Brigida Lioi; Matilde Valeria Ursini
Journal:  Int Rev Immunol       Date:  2015-08-13       Impact factor: 5.311

7.  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

8.  NEMO, a Transcriptional Target of Estrogen and Progesterone, Is Linked to Tumor Suppressor PML in Breast Cancer.

Authors:  Hanan S Elsarraj; Kelli E Valdez; Yan Hong; Sandra L Grimm; Lawrence R Ricci; Fang Fan; Ossama Tawfik; Lisa May; Therese Cusick; Marc Inciardi; Mark Redick; Jason Gatewood; Onalisa Winblad; Susan Hilsenbeck; Dean P Edwards; Christy R Hagan; Andrew K Godwin; Carol Fabian; Fariba Behbod
Journal:  Cancer Res       Date:  2017-05-17       Impact factor: 12.701
  8 in total

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