A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy-Reference-Cited by-同舟云学术

A Novel Gain-of-Function IKBA Mutation Underlies Ectodermal Dysplasia with Immunodeficiency and Polyendocrinopathy

Published:2013-05-25 Issue:6 Volume:33 Page:1088-1099
ISSN:0271-9142
Container-title:Journal of Clinical Immunology
language:en
Short-container-title:J Clin Immunol

Author:

Schimke Lena F.,Rieber Nikolaus,Rylaarsdam Stacey,Cabral-Marques Otávio,Hubbard Nicholas,Puel Anne,Kallmann Laura,Sombke Stephanie Anover,Notheis Gundula,Schwarz Hans-Peter,Kammer Birgit,Hökfelt Tomas,Repp Reinald,Picard Capucine,Casanova Jean-Laurent,Belohradsky Bernd H.,Albert Michael H.,Ochs Hans D.,Renner Ellen D.,Torgerson Troy R.

Publisher

Springer Science and Business Media LLC

Subject

Immunology,Immunology and Allergy

Link

http://link.springer.com/content/pdf/10.1007/s10875-013-9906-1.pdf

Reference53 articles.

1. Abinun M. Ectodermal dysplasia and immunodeficiency. Arch Dis Child. 1995;73:185.

2. Carrol ED, Gennery AR, Flood TJ, Spickett GP, Abinun M. Anhidrotic ectodermal dysplasia and immunodeficiency: the role of NEMO. Arch Dis Child. 2003;88:340–1.

3. Puel A, Picard C, Ku CL, Smahi A, Casanova JL. Inherited disorders of NF-kappaB-mediated immunity in man. Curr Opin Immunol. 2004;16:34–41.

4. Doffinger R, Smahi A, Bessia C, Geissmann F, Feinberg J, Durandy A, Bodemer C, Kenwrick S, Dupuis-Girod S, Blanche S, Wood P, Rabia SH, Headon DJ, Overbeek PA, Le Deist F, Holland SM, Belani K, Kumararatne DS, Fischer A, Shapiro R, Conley ME, Reimund E, Kalhoff H, Abinun M, Munnich A, Israel A, Courtois G, Casanova JL. X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-kappaB signaling. Nat Genet. 2001;27:277–85.

5. Courtois G. The NF-kappaB signaling pathway in human genetic diseases. Cell Mol Life Sci. 2005;62:1682–91.

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