JCI Table of Contents, 1 October, 2003

A binding factor that exists and accumulates in the cytoplasm of resting cells. Relocation of NF-kappaB to the cell nucleus is a crucial step in the expression of many genes fundamental to cell development, survival, and function. Jean-Laurent Casanova and colleagues report a novel human mutation in the gene encoding the protein NEMO, which negatively regulates NF-kappaB activation. This mutation gives rise to the clinical syndrome ectodermal dysplasia, characterized by the abnormal development of the skin, hair, nails, teeth, and sweat glands in addition to an increased susceptibility to infection.

In an accompanying commentary, Jordan Orange and Raif Geha from Harvard Medical School discuss how the study of human gene mutations that result in dysreguation of the NF-kappaB pathway has provided insight into the functions of individual components of NF-kappaB activation, their interrelations, and the significance of these signaling pathways to the human body.

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

Jean-Laurent Casanova
Universit de Paris Ren Descartes-INSERM 550, Paris, France.
Phone: 33-1-40-61-53-81
Fax: 33-1-40-61-56-88
E-mail: casanova@necker.fr

View the PDF of this article at: https://www.the-jci.org/press/18714.pdf

Finding NEMO: genetic disorders of NF-kappaB activation

Raif S. Geha
Children's Hospital, Boston, Massachusetts, USA.
Phone: 617-355-7603
Fax: 617-730-0528
E-mail: Raif.Geha@TCH.Harvard.edu

View the PDF of this commentary at: https://www.the-jci.org/press/19960.pdf


Contact: Brooke Grindlinger
Journal of Clinical Investigation

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