Rebecca A Drummond, Jigar V Desai, Amy P Hsu, Vasileios Oikonomou, Donald C Vinh, Joshua A Acklin, Michael S Abers, Magdalena A Walkiewicz, Sarah L Anzick, Muthulekha Swamydas, Simon Vautier, Mukil Natarajan, Andrew J Oler, Daisuke Yamanaka, Katrin D Mayer-Barber, Yoichiro Iwakura, David Bianchi, Brian Driscoll, Ken Hauck, Ahnika Kline, Nicholas Sp Viall, Christa S Zerbe, Elise Mn Ferré, Monica M Schmitt, Tom DiMaggio, Stefania Pittaluga, John A Butman, Adrian M Zelazny, Yvonne R Shea, Cesar A Arias, Cameron Ashbaugh, Maryam Mahmood, Zelalem Temesgen, Alexander G Theofiles, Masayuki Nigo, Varsha Moudgal, Karen C Bloch, Sean G Kelly, M Suzanne Whitworth, Ganesh Rao, Cindy J Whitener, Neema Mafi, Juan Gea-Banacloche, Lawrence C Kenyon, William R Miller, Katia Boggian, Andrea Gilbert, Matthew Sincock, Alexandra F Freeman, John E Bennett, Rodrigo Hasbun, Constantinos M Mikelis, Kyung J Kwon-Chung, Yasmine Belkaid, Gordon D Brown, Jean K Lim, Douglas B Kuhns, Steven M Holland, Michail S Lionakis
Subcutaneous phaeohyphomycosis typically affects immunocompetent individuals following traumatic inoculation. Severe or disseminated infection can occur in CARD9 deficiency or after transplantation, but the mechanisms protecting against phaeohyphomycosis remain unclear. We evaluated a patient with progressive, refractory Corynespora cassiicola phaeohyphomycosis and found that he carried biallelic deleterious mutations in CLEC7A encoding the CARD9-coupled, β-glucan-binding receptor, Dectin-1. The patient's PBMCs failed to produce TNF-α and IL-1β in response to β-glucan and/or C...
November 15, 2022: Journal of Clinical Investigation