PRF1 mutation alters immune system activation, inflammation and risk of autoimmunity

BACKGROUND: Defective alleles within the PRF1 gene, encoding the pore-forming protein perforin, in combination with environmental factors, cause familial type 2 hemophagocytic lymphohistiocytosis (FHL2), a rare, severe autosomal recessive childhood disorder characterized by massive release of cytoki...

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Publicado en:Mult Scler
Main Authors: Sidore, Carlo, Orrù, Valeria, Cocco, Eleonora, Steri, Maristella, Inshaw, Jamie RJ, Pitzalis, Maristella, Mulas, Antonella, McGurnaghan, Stuart, Frau, Jessica, Porcu, Eleonora, Busonero, Fabio, Dei, Mariano, Lai, Sandra, Sole, Gabriella, Virdis, Francesca, Serra, Valentina, Poddie, Fausto, Delitala, Alessandro, Marongiu, Michele, Deidda, Francesca, Pala, Mauro, Floris, Matteo, Masala, Marco, Onengut-Gumuscu, Suna, Robertson, Catherine C, Leoni, Lidia, Frongia, Annapaola, Ricciardi, Maria Rossella, Chessa, Margherita, Olla, Nazario, Lovicu, Mario, Loizedda, Annalisa, Maschio, Andrea, Mereu, Luisa, Ferrigno, Paola, Curreli, Nicolo, Balaci, Lenuta, Loi, Francesco, Ferreli, Liana AP, Pilia, Maria Grazia, Pani, Antonello, Marrosu, Maria Giovanna, Abecasis, Goncalo R, Rich, Stephen S, Colhoun, Helen, Todd, John A, Schlessinger, David, Fiorillo, Edoardo, Cucca, Francesco, Zoledziewska, Magdalena
Formato: Artigo
Idioma:Inglês
Publicado: 2020
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Article
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC8044257/
https://ncbi.nlm.nih.gov/pubmed/33566725
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1177/1352458520963937
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