Human disease resulting from gene mutations that interfere with appropriate nuclear factor-κB activation

The nuclear factor (NF)-κB family of transcription factors serves vital roles in a wide array of cell functions. An increasing number of human genetic lesions that result in defined disease entities are linked to inappropriate activation of NF-κB. The resulting aberrant NF-κB function can lead to cellular defects that ultimately impair normal developmental processes, host immune defenses, or both. Molecular defects that lie upstream in cell-signaling pathways and rely upon NF-κB activation tend to give a more specific phenotype, whereas those closer to the actual NF-κB proteins have broader defects. A detailed study of these diseases can provide insight into the biochemistry of NF-κB activation as well as the role of NF-κB in human health.