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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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| Autori principali: | , , , , , , , , , , , |
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| Natura: | Artigo |
| Lingua: | Inglês |
| Pubblicazione: |
American Society for Clinical Investigation
2005
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| Soggetti: | |
| Accesso online: | 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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