Literature DB >> 12651765

Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO.

E D Carrol1, A R Gennery, T J Flood, G P Spickett, M Abinun.   

Abstract

Anhidrotic (hypohidrotic) ectodermal dysplasia associated with immunodeficiency (EDA-ID; OMIM 300291) is a newly recognised primary immunodeficiency caused by mutations in NEMO, the gene encoding nuclear factor kappaB (NF-kappaB) essential modulator, NEMO, or inhibitor of kappaB kinase (IKK-gamma). This protein is essential for activation of the transcription factor NF-kappaB, which plays an important role in human development, skin homoeostasis, and immunity.

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Year:  2003        PMID： 12651765      PMCID： PMC1719512          DOI： 10.1136/adc.88.4.340

Source DB:  PubMed          Journal:  Arch Dis Child        ISSN： 0003-9888            Impact factor:   3.791


  9 in total

1.  Three successive generations of women with anhidrotic/hypohidrotic ectodermal dysplasia.

Authors:  Rui G Rodrigues
Journal:  J Natl Med Assoc       Date:  2005-01       Impact factor: 1.798

2.  NEMO is a key component of NF-κB- and IRF-3-dependent TLR3-mediated immunity to herpes simplex virus.

Authors:  Magali Audry; Michael Ciancanelli; Kun Yang; Aurelie Cobat; Huey-Hsuan Chang; Vanessa Sancho-Shimizu; Lazaro Lorenzo; Tim Niehues; Janine Reichenbach; Xiao-Xia Li; Alain Israel; Laurent Abel; Jean-Laurent Casanova; Shen-Ying Zhang; Emmanuelle Jouanguy; Anne Puel
Journal:  J Allergy Clin Immunol       Date:  2011-07-01       Impact factor: 10.793

Review 3.  Genetic lessons learned from X-linked Mendelian susceptibility to mycobacterial diseases.

Authors:  Jacinta Bustamante; Capucine Picard; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Ann N Y Acad Sci       Date:  2011-12       Impact factor: 5.691

Review 4.  NF-κB in the regulation of epithelial homeostasis and inflammation.

Authors:  Andy Wullaert; Marion C Bonnet; Manolis Pasparakis
Journal:  Cell Res       Date:  2010-12-14       Impact factor: 25.617

5.  The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translation.

Authors:  Anne Puel; Janine Reichenbach; Jacinta Bustamante; Cheng-Lung Ku; Jacqueline Feinberg; Rainer Döffinger; Marion Bonnet; Orchidée Filipe-Santos; Ludovic de Beaucoudrey; Anne Durandy; Gerd Horneff; Francesco Novelli; Volker Wahn; Asma Smahi; Alain Israel; Tim Niehues; Jean-Laurent Casanova
Journal:  Am J Hum Genet       Date:  2006-02-15       Impact factor: 11.025

6.  A novel gain-of-function IKBA mutation underlies ectodermal dysplasia with immunodeficiency and polyendocrinopathy.

Authors:  Lena F Schimke; Nikolaus Rieber; Stacey Rylaarsdam; Otávio Cabral-Marques; Nicholas Hubbard; Anne Puel; Laura Kallmann; Stephanie Anover Sombke; Gundula Notheis; Hans-Peter Schwarz; Birgit Kammer; Tomas Hökfelt; Reinald Repp; Capucine Picard; Jean-Laurent Casanova; Bernd H Belohradsky; Michael H Albert; Hans D Ochs; Ellen D Renner; Troy R Torgerson
Journal:  J Clin Immunol       Date:  2013-05-25       Impact factor: 8.317

Review 7.  X-linked immunodeficiencies.

Authors:  Hans D Ochs; Luigi D Notarangelo
Journal:  Curr Allergy Asthma Rep       Date:  2004-09       Impact factor: 4.806

8.  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

Review 9.  Educational paper: syndromic forms of primary immunodeficiency.

Authors:  Rogier Kersseboom; Alice Brooks; Corry Weemaes
Journal:  Eur J Pediatr       Date:  2011-02-22       Impact factor: 3.183
  9 in total

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