Specific NEMO mutations impair CD40-mediated c-Rel activation and B cell terminal differentiation

Hypomorphic mutations in the zinc finger domain of NF-κB essential modulator (NEMO) cause X-linked hyper-IgM syndrome with ectodermal dysplasia (XHM-ED). Here we report that patient B cells are characterized by an absence of Ig somatic hypermutation (SHM) and defective class switch recombination (CS...

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Main Authors: Jain, Ashish, Ma, Chi A., Lopez-Granados, Eduardo, Means, Gary, Brady, William, Orange, Jordan S., Liu, Shuying, Holland, Steven, Derry, Jonathan M.J.
Format: Artigo
Jezik:Inglês
Izdano: American Society for Clinical Investigation 2004
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Article
Online dostop:https://ncbi.nlm.nih.gov/pmc/articles/PMC529497/
https://ncbi.nlm.nih.gov/pubmed/15578091
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200421345
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