A mutation in human IKKα compromises noncanonical NF-κB signaling resulting in primary immunodeficiency associated with autoimmunity.

Researchers (CEGIR) (grant no. U54AI117804). CEGIR is part of the Rare Disease Clinical Research Network, an initiative of the Office of Rare Disease Research, the National Center for Advancing Translational Sciences (NCATS), and is funded through collaboration between the National Institute of Allergy and Infectious Diseases, the National Institute of Diabetes and Digestive and Kidney Diseases, NCATS, and patient advocacy groups including APFED, CURED, and EFC. Manuscript contents are the authors' sole responsibility and do not necessarily represent official NIH views. The study sponsors played no role in the study design in the collection, analysis, and interpretation of data. Disclosure of potential conflict of interest: B. L. Wright's institution received grants from the Mayo Clinic, Phoenix Children's Hospital Foundation, and Don and Kathy Levin Family Foundation. G. T. Furuta is founder of EnteroTrack and received consultancy fees from Shire and royalties from UpToDate. The rest of the authors declare that they have no relevant conflicts of interest.

Barbouche et al.: Molecular basis of primary immune deficiencies in a highly inbred population. BMC Proceedings 2011 5(Suppl 1): P34.