Abstract: Incontinentia Pigmenti (IP) is a neurocutaneous genodermatosis that segregates as an X-linked dominant disorder with a high probability of prenatal male lethality. A locus in Xq28 containing NF-&kgr;B Essential Modulator, a gene product involved in the activation of NF-kB and central to many pro-inflammatory and apoptotic pathways, contains mutations in the majority of cases of IP. Disclosed are methods, compositions and kits directed to a defect in a NF-&kgr;B related disease such as IP.
Type:
Grant
Filed:
May 22, 2001
Date of Patent:
November 30, 2004
Assignees:
Baylor College of Medicine, Cambridge University Technical Services Limited, Consiglio Nazionale Delle Richerche, INSERM, L'Institut Pasteur
Inventors:
Sue J. Kenwrick, Hayley Woffendin, Arnold Munnich, Asmae Smahi, Alain Israel, Annemarie Poustka, Nina Heiss, Michele D'Urso, Richard A. Lewis, David L. Nelson, Swaroop Aradhya, Moise Levy