Open AccessPRF1 mutation alters immune system activation, inflammation, and risk of autoimmunity
Author(s) -
Carlo Sidore,
Valeria Orrù,
Eleonora Cocco,
Maristella Steri,
Jamie Inshaw,
Maristella Pitzalis,
Antonella Mulas,
Stuart J. McGurnaghan,
Jessica Frau,
Eleonora Porcu,
Fabio Busonero,
Mariano Dei,
Sandra Lai,
Gabriella Sole,
Francesca Virdis,
Valentina Serra,
Fausto Pier'Angelo Poddie,
Alessandro Delitala,
Michele Marongiu,
Francesca Deidda,
Mauro Pala,
Matteo Floris,
Marco Masala,
Suna Önengüt-Gümüşcü,
Catherine Robertson,
Lidia Leoni,
Annapaola Frongia,
Maria Rossella Ricciardi,
Margherita Chessa,
Nazario Olla,
Mario Lovicu,
Annalisa Loizedda,
Andrea Maschio,
Luisa Mereu,
Paola Ferrigno,
Nicolò Curreli,
Lenuta Balaci,
Francesco Loi,
Liana Ap Ferreli,
Maria Grazia Pilia,
Antonello Pani,
Maria Giovanna Marrosu,
Gonçalo R. Abecasis,
Stephen S. Rich,
Helen M. Colhoun,
John A. Todd,
David Schlessinger,
Edoardo Fiorillo,
Francesco Cucca,
Magdalena Żołędziewska
Publication year - 2020
Publication title -
multiple sclerosis
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.729
H-Index - 131
eISSN - 1477-0970
pISSN - 1352-4585
DOI - 10.1177/1352458520963937
Subject(s) - hemophagocytic lymphohistiocytosis , immunology , cytotoxic t cell , population , biology , perforin , allele , genetics , haplotype , immune system , cd8 , medicine , disease , gene , environmental health , in vitro
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.