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...

Celý popis

Uloženo v:
Podrobná bibliografie
Vydáno v:J Clin Invest
Hlavní autoři: 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
Médium: Artigo
Jazyk:Inglês
Vydáno: American Society for Clinical Investigation 2005
Témata:
Article
On-line přístup: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
Tagy: Přidat tag
Žádné tagy, Buďte první, kdo otaguje tento záznam!

Podobné jednotky