Article
EDA-ID and IP, two faces of the same coin: how the same IKBKG/NEMO mutation affecting the NF-κB pathway can cause immunodeficiency and/or inflammation.
International reviews of immunology - 1 Jan 2015
Fusco Francesca, Pescatore Alessandra, Conte Matilde Immacolata, Mirabelli Peppino, Paciolla Mariateresa, Esposito Elio, Lioi Maria Brigida, Ursini Matilde Valeria
Abstract excerpt
Anhidrotic Ectodermal Dysplasia with ImmunoDeficiency (EDA-ID, OMIM 300291) and Incontinentia Pigmenti (IP, OMIM 308300) are two rare diseases, caused by mutations of the IKBKG/NEMO gene. The protein NEMO/IKKγ is essential for the NF-κB activation pathway, involved in a variety of physiological and cellular processes, such as immunity, inflammation, cell proliferation, and survival. A wide spectrum of IKBKG/NEMO...
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