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- Title
A novel missense mutation in the nuclear factor-κB essential modulator (NEMO) gene resulting in impaired activation of the NF-κB pathway and a unique clinical phenotype presenting as MRSA subdural empyema.
- Authors
Devora, Gene A; Sun, Lijun; Chen, Zhijian; van Oers, Nicolai S C; Hanson, Eric P; Orange, Jordan S; de la Morena, M Teresa
- Abstract
We describe a previously unreported 437 T→G missense mutation producing a V146G substitution in the first coiled-coil (CC1) domain of nuclear factor-κB essential modulator (NEMO) in a 9-month-old boy with ectodermal dysplasia with immunodeficiency who presented with methicillin-resistant Staphylococcus aureus subdural empyema. We performed in vitro experiments to determine if this novel mutation resulted in impaired NF-κB signaling.
- Publication
Journal of clinical immunology, 2010, Vol 30, Issue 6, p881
- ISSN
1573-2592
- Publication type
Journal Article
- DOI
10.1007/s10875-010-9445-y