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
摘要
Martin-Fernandez等人描述了部分USP18缺乏的患者，这是I型干扰素病和分枝杆菌病(MSMD)孟德尔易感性的基础。这项工作描述了缺乏IFN- i信号通路的负调控，导致IFN-γ - il - 12环路的抑制，这是MSMD的原因之一。
A partial form of inherited human USP18 deficiency underlies infection and inflammation
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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