A Novel Assay in Whole Blood Demonstrates Restoration of Mitochondrial Activity in Phagocytes After Successful HSCT in Hyperinflamed X-Linked Chronic Granulomatous Disease.
Journal Of Clinical Immunology
Migliavacca, Maddalena M; Basso Ricci, Luca L; Farinelli, Giada G; Calbi, Valeria V; Tucci, Francesca F; Barzaghi, Federica F; Ferrua, Francesca F; Cicalese, Maria Pia MP; Darin, Silvia S; Barzaghi, Lina Raffaella LR; Giglio, Fabio F; Peccatori, Jacopo J; Fumagalli, Francesca F; Nicoletti, Roberto R; Giannelli, Stefania S; Sartirana, Claudia C; Bandiera, Alessandro A; Esposito, Maria M; Milani, Raffaella R; Mazzi, Benedetta B; Finocchi, Andrea A; Marktel, Sarah S; Assanelli, Andrea A; Locatelli, Franco F; Ciceri, Fabio F; Aiuti, Alessandro A; Bernardo, Maria Ester ME
Publication Date: 2022-11
Variant appearance in text: CYBB: 535G>A; Gly179Arg
Hematologically important mutations: X-linked chronic granulomatous disease (third update).
Blood Cells, Molecules & Diseases
Roos, Dirk D; Kuhns, Douglas B DB; Maddalena, Anne A; Roesler, Joachim J; Lopez, Juan Alvaro JA; Ariga, Tadashi T; Avcin, Tadej T; de Boer, Martin M; Bustamante, Jacinta J; Condino-Neto, Antonio A; Di Matteo, Gigliola G; He, Jianxin J; Hill, Harry R HR; Holland, Steven M SM; Kannengiesser, Caroline C; Köker, M Yavuz MY; Kondratenko, Irina I; van Leeuwen, Karin K; Malech, Harry L HL; Marodi, László L; Nunoi, Hiroyuki H; Stasia, Marie-José MJ; Ventura, Anna Maria AM; Witwer, Carl T CT; Wolach, Baruch B; Gallin, John I JI