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Human disease resulting from gene mutations that interfere with appropriate nuclear factor‐κB activation
Author(s) -
Orange Jordan S.,
Levy Ofer,
Geha Raif S.
Publication year - 2005
Publication title -
immunological reviews
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 6.839
H-Index - 223
eISSN - 1600-065X
pISSN - 0105-2896
DOI - 10.1111/j.0105-2896.2005.00221.x
Subject(s) - transcription factor , biology , nfkb1 , phenotype , gene , nf κb , microbiology and biotechnology , disease , genetics , immune system , signal transduction , nuclear protein , medicine , pathology
Summary: 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.