Diagnosis and treatment of medical conditions associated with defective NFkappa B(NF-&kgr;B) activation

US6824972B2 · kind B2 · utility

Assignees

• Baylor College of Medicine · US
• CAMBRIDGE UNIVERSITY TECHNICAL SERVICES · GB
• CONSIGLIO NAZIONALE DELLE RICERCHE · IT
• INSERM · FR
• L'Institut Pasteur · FR
• Annemarie Poustka · DE
• Nina Heiss · DE

Inventors

• Sue J. Kenwrick · Cambridge, GB
• Hayley Woffendin · Cambridge, GB
• Arnold Munnich · Paris, FR
• Asmae Smahi · Fécamp, FR
• Alain Israel · Paris, FR
• Annemarie Poustka · Heidelberg, DE
• Nina Heiss · Heidelberg, DE
• Michele D'Urso · Napoli, IT
• Richard A. Lewis · Houston, US
• David L. Nelson · Bethesda, US
• Swaroop Aradhya · San Francisco, US
• Moise Levy · Houston, US

Key dates

• Filing date: May 22, 2001
• Grant date: Nov 30, 2004
• Expiry date: Jun 1, 2021

Classification

• Technology area (CPC G): Physics
• CPC primary: G01N2333/4703
• WIPO field: Biotechnology
• WIPO sector: Chemistry

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.