Transplantation from a symptomatic carrier sister restores host defenses but does not prevent colitis in NEMO deficiency

NF-κB essential modulator (NEMO) deficiency causes ectodermal dysplasia with immunodeficiency in males, while manifesting as incontinentia pigmenti in heterozygous females. We report a family with NEMO deficiency, in which a female carrier displayed skewed X-inactivation favoring the mutant NEMO all...

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Publicat a:Clin Immunol
Autors principals: Klemann, Christian, Pannicke, Ulrich, Morris-Rosendahl, Deborah J., Vlantis, Katerina, Rizzi, Marta, Uhlig, Holm, Vraetz, Thomas, Speckmann, Carsten, Strahm, Brigitte, Pasparakis, Manolis, Schwarz, Klaus, Ehl, Stephan, Rohr, Jan C.
Format: Artigo
Idioma:Inglês
Publicat: 2016
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Article
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC6101191/
https://ncbi.nlm.nih.gov/pubmed/26812624
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.clim.2016.01.010
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