Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
3201472 | Journal of Allergy and Clinical Immunology | 2008 | 7 Pages |
Abstract
Unlike the unique NEMO mutation described here, the most commonly reported mutations are clustered at the 3â² end in the tenth exon, which encodes a zinc finger domain. Because specific hypomorphic variants of NEMO are associated with distinctive phenotypes, this particular NEMO mutation highlights a dispensability of the region including amino acid 113 for TLR signaling and ectodysplasin A receptor function. This region is required for certain immunoreceptor functions as demonstrated by his susceptibility to infections as well as natural killer cell and T-cell defects.
Keywords
Related Topics
Life Sciences
Immunology and Microbiology
Immunology
Authors
Bryn H. MD, Julie E. BS, Rahul PhD, Eric P. MD, Raquel P. BA, Ralph MD, Ashish MD, Jordan S. MD, PhD, Erwin W. MD,