AIRE deficiency in thymus of 2 patients with Omenn syndrome

Omenn syndrome is a severe primary immunodeficiency with putative autoimmune manifestations of the skin and gastrointestinal tract. The disease is caused by hypomorphic mutations in recombination-activating genes that impair but do not abolish the process of VDJ recombination, leading to the generat...

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Bibliographische Detailangaben
Hauptverfasser: Cavadini, Patrizia, Vermi, William, Facchetti, Fabio, Fontana, Stefania, Nagafuchi, Seiho, Mazzolari, Evelina, Sediva, Anna, Marrella, Veronica, Villa, Anna, Fischer, Alain, Notarangelo, Luigi D., Badolato, Raffaele
Format: Artigo
Sprache:Inglês
Veröffentlicht: American Society for Clinical Investigation 2005
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC546458/
https://ncbi.nlm.nih.gov/pubmed/15696198
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1172/JCI200523087
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