Genetic Diseases Affecting the Non-canonical Pathway of NF-κB Activation View Full Text


Ontology type: schema:Chapter     


Chapter Info

DATE

2016

AUTHORS

Gilles Courtois , Alessandra Pescatore , Jérémie Gautheron , Francesca Fusco , Matilde Valeria Ursini , Anna Senegas

ABSTRACT

Although performing more restricted functions than the canonical pathway of NF-κB activation, the non-canonical pathway plays an essential role in controlling immune-related events such as B-cell maturation, peripheral lymphoid development, and thymic development. In humans, mutations affecting the three main components of this pathway (The initiator kinase NIK and its effectors, the NF-κB subunits p100/p52 and RelB) have been recently identified. In each case, immunodeficiency mostly characterized by hypogammaglobulinemia with recurrent infection due to impaired B-cell function was observed together with more specific abnormalities. This emphasizes the deleterious consequences of impaired activation of the non-canonical pathway in a whole organism and confirms and extents previously reported studies done with mice defective in this pathway. More... »

PAGES

49-55

Book

TITLE

NF-κB-Related Genetic Diseases

ISBN

978-3-319-25848-5
978-3-319-25850-8

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/978-3-319-25850-8_3

DOI

http://dx.doi.org/10.1007/978-3-319-25850-8_3

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1023456486


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