Literature DB >> 27368913

A Novel Mutation in IKBKG/NEMO Leads to Ectodermal Dysplasia with Severe Immunodeficiency (EDA-ID).

Alicia M Johnston1, Julie Niemela2, Sergio D Rosenzweig2, Ari J Fried3, Ottavia Maria Delmonte3, Thomas A Fleisher2, Hyesun Kuehn2.   

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Year:  2016        PMID： 27368913      PMCID： PMC5007618          DOI： 10.1007/s10875-016-0309-y

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  7 in total

1.  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

2.  A novel X-linked disorder of immune deficiency and hypohidrotic ectodermal dysplasia is allelic to incontinentia pigmenti and due to mutations in IKK-gamma (NEMO).

Authors:  J Zonana; M E Elder; L C Schneider; S J Orlow; C Moss; M Golabi; S K Shapira; P A Farndon; D W Wara; S A Emmal; B M Ferguson
Journal:  Am J Hum Genet       Date:  2000-10-24       Impact factor: 11.025

3.  Human nuclear factor kappa B essential modulator mutation can result in immunodeficiency without ectodermal dysplasia.

Authors:  Jordan S Orange; Ofer Levy; Scott R Brodeur; Konrad Krzewski; Rene M Roy; Julie E Niemela; Thomas A Fleisher; Francisco A Bonilla; Raif S Geha
Journal:  J Allergy Clin Immunol       Date:  2004-09       Impact factor: 10.793

4.  Deficiency of innate and acquired immunity caused by an IKBKB mutation.

Authors:  Ulrich Pannicke; Bernd Baumann; Sebastian Fuchs; Philipp Henneke; Anne Rensing-Ehl; Marta Rizzi; Ales Janda; Katrin Hese; Michael Schlesier; Karlheinz Holzmann; Stephan Borte; Constanze Laux; Eva-Maria Rump; Alan Rosenberg; Teresa Zelinski; Hubert Schrezenmeier; Thomas Wirth; Stephan Ehl; Marlis L Schroeder; Klaus Schwarz
Journal:  N Engl J Med       Date:  2013-12-26       Impact factor: 91.245

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

6.  A hypermorphic IkappaBalpha mutation is associated with autosomal dominant anhidrotic ectodermal dysplasia and T cell immunodeficiency.

Authors:  Gilles Courtois; Asma Smahi; Janine Reichenbach; Rainer Döffinger; Caterina Cancrini; Marion Bonnet; Anne Puel; Christine Chable-Bessia; Shoji Yamaoka; Jacqueline Feinberg; Sophie Dupuis-Girod; Christine Bodemer; Susanna Livadiotti; Francesco Novelli; Paolo Rossi; Alain Fischer; Alain Israël; Arnold Munnich; Françoise Le Deist; Jean-Laurent Casanova
Journal:  J Clin Invest       Date:  2003-10       Impact factor: 14.808

7.  Genomic rearrangement in NEMO impairs NF-kappaB activation and is a cause of incontinentia pigmenti. The International Incontinentia Pigmenti (IP) Consortium.

Authors:  A Smahi; G Courtois; P Vabres; S Yamaoka; S Heuertz; A Munnich; A Israël; N S Heiss; S M Klauck; P Kioschis; S Wiemann; A Poustka; T Esposito; T Bardaro; F Gianfrancesco; A Ciccodicola; M D'Urso; H Woffendin; T Jakins; D Donnai; H Stewart; S J Kenwrick; S Aradhya; T Yamagata; M Levy; R A Lewis; D L Nelson
Journal:  Nature       Date:  2000-05-25       Impact factor: 49.962
  7 in total
  2 in total

1.  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

2.  Simulation of the dynamics of primary immunodeficiencies in CD4+ T-cells.

Authors:  Gabriel N Teku; Mauno Vihinen
Journal:  PLoS One       Date:  2017-04-27       Impact factor: 3.240
  2 in total

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