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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Bibliografiska uppgifter
I publikationen:J Clin Invest
Huvudupphovsmän: 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
Materialtyp: Artigo
Språk:Inglês
Publicerad: American Society for Clinical Investigation 2005
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Article
Länkar:https://ncbi.nlm.nih.govhttps://pmc.ncbi.nlm.nih.gov/articles/PMC546458/
https://ncbi.nlm.nih.govhttps://pubmed.ncbi.nlm.nih.gov/15696198/
https://ncbi.nlm.nih.govhttps://doi.org/10.1172/JCI23087
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