M. Martín-Fernández, S. Buta, Tom Le Voyer, Zhi Li, Lasse Toftdal Dynesen, F. Vuillier, Lina Franklin, F. Ailal, Alice Muglia Amancio, L. Malle, C. Gruber, I. Benhsaien, J. Altman, J. Taft, C. Deswarte, Manon Roynard, A. Nieto-Patlán, K. Moriya, J. Rosain, N. Boddaert, A. Bousfiha, Y. Crow, Dragana Jankovic, A. Sher, J. Casanova, S. Pellegrini, J. Bustamante, D. Bogunovic
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引用次数: 21
Abstract
Martin-Fernandez et al. describe patients with partial USP18 deficiency, which underlies both type I interferonopathy and Mendelian susceptibility to mycobacterial disease (MSMD). This work delineates the lack of negative regulation of the IFN-I signaling pathway leading to depression of the IFN-γ–IL12 loop as a cause of MSMD.
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