Article
IKBKG (nuclear factor-kappa B essential modulator) mutation can be associated with opportunistic infection without impairing Toll-like receptor function.
The Journal of allergy and clinical immunology - 1 Apr 2008
Salt Bryn H, Niemela Julie E, Pandey Rahul, Hanson Eric P, Deering Raquel P, Quinones Ralph, Jain Ashish, Orange Jordan S, Gelfand Erwin W
Abstract excerpt
BACKGROUND: Patients with hypomorphic nuclear factor-kappaB essential modulator (NEMO) mutations have extensive phenotypic variability that can include atypical infectious susceptibility. OBJECTIVE: This study may provide important insight into immunologic mechanisms of host defense. METHODS: Immunologic evaluation, including studies of Toll-like receptor (TLR) function, was performed in a 6-month-old boy with...
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