Omenn syndrome associated with a functional reversion due to a somatic second-site mutation in CARD11 deficiency

Omenn syndrome (OS) is a severe immunodeficiency associated with erythroderma, lymphoproliferation, elevated IgE, and hyperactive oligoclonal T cells. A restricted T-cell repertoire caused by defective thymic T-cell development and selection, lymphopenia with homeostatic proliferation, and lack of r...

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Detalhes bibliográficos
Publicado no:Blood
Main Authors: Fuchs, Sebastian, Rensing-Ehl, Anne, Pannicke, Ulrich, Lorenz, Myriam R., Fisch, Paul, Jeelall, Yogesh, Rohr, Jan, Speckmann, Carsten, Vraetz, Thomas, Farmand, Susan, Schmitt-Graeff, Annette, Krüger, Marcus, Strahm, Brigitte, Henneke, Philipp, Enders, Anselm, Horikawa, Keisuke, Goodnow, Christopher, Schwarz, Klaus, Ehl, Stephan
Formato: Artigo
Idioma:Inglês
Publicado em: American Society of Hematology 2015
Assuntos:
Immunobiology
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4654427/
https://ncbi.nlm.nih.gov/pubmed/26289640
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1182/blood-2015-03-631374
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