Article
PRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity.
Multiple sclerosis (Houndmills, Basingstoke, England) - 1 Aug 2021
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
Abstract excerpt
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 cytokines-cytokine storm. OBJECTIVE: The aim of this study was to determine the function of hypomorph PRF1:p.A91V...
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