A partial form of inherited human USP18 deficiency underlies infection and inflammation

Marta Martin-fernandez; Sofija Buta; Tom Le Voyer; Zhi Li; Lasse Toftdal Dynesen Dynesen; Françoise  Vuillier; Lina  Franklin; Fatima Ailal; Alice Muglia  Amanico; Louise  Malle; Conor Gruber; Ibtihal  Benhsaien; Jennie Altman; Justin  Taft; Caroline Deswarte; Manon Roynard; Alejandro  Nieto-Patlan; Kunihiko Moriya; Jérémie Rosain; Nathalie Boddaert; Aziz Bousfiha; Yanick J Crow; Dragana  Jankovic; Alan Sher; Jean-Laurent Casanova; Sandra Pellegrini; Jacinta Bustamante; Dusan Bogunovic

doi:https://doi.org/10.1084/jem.20211273

A partial form of inherited human USP18 deficiency underlies infection and inflammation

Marta Martin-fernandez, Sofija Buta, Tom Le Voyer, Zhi Li, Lasse Toftdal Dynesen Dynesen, Françoise Vuillier, Lina Franklin, Fatima Ailal, Alice Muglia Amanico, Louise Malle, Conor Gruber, Ibtihal Benhsaien, Jennie Altman, Justin Taft, Caroline Deswarte, Manon Roynard, Alejandro Nieto-Patlan, Kunihiko Moriya, Jérémie Rosain, Nathalie BoddaertAziz Bousfiha, Yanick J Crow, Dragana Jankovic, Alan Sher, Jean-Laurent Casanova, Sandra Pellegrini, Jacinta Bustamante, Dusan Bogunovic

Research output: Contribution to journal › Article › peer-review

Original language	English
Journal	Journal of Experimental Medicine
Early online date	8 Mar 2022
DOIs	https://doi.org/10.1084/jem.20211273
Publication status	E-pub ahead of print - 8 Mar 2022

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https://doi.org/10.1084/jem.20211273

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Martin-fernandez, M., Buta, S., Le Voyer, T., Li, Z., Dynesen, L. T. D., Vuillier, F., Franklin, L., Ailal, F., Amanico, A. M., Malle, L., Gruber, C., Benhsaien, I., Altman, J., Taft, J., Deswarte, C., Roynard, M., Nieto-Patlan, A., Moriya, K., Rosain, J., ... Bogunovic, D. (2022). A partial form of inherited human USP18 deficiency underlies infection and inflammation. Journal of Experimental Medicine. Advance online publication. https://doi.org/10.1084/jem.20211273

@article{b035dcc020b749d9bfa5ea35802168b8,

title = "A partial form of inherited human USP18 deficiency underlies infection and inflammation",

author = "Marta Martin-fernandez and Sofija Buta and {Le Voyer}, Tom and Zhi Li and Dynesen, {Lasse Toftdal Dynesen} and Fran{\c c}oise Vuillier and Lina Franklin and Fatima Ailal and Amanico, {Alice Muglia} and Louise Malle and Conor Gruber and Ibtihal Benhsaien and Jennie Altman and Justin Taft and Caroline Deswarte and Manon Roynard and Alejandro Nieto-Patlan and Kunihiko Moriya and J{\'e}r{\'e}mie Rosain and Nathalie Boddaert and Aziz Bousfiha and Crow, {Yanick J} and Dragana Jankovic and Alan Sher and Jean-Laurent Casanova and Sandra Pellegrini and Jacinta Bustamante and Dusan Bogunovic",

note = "Funding Information: This research was in part supported by the Division of In-tramural Research of the National Institute of Allergy and Infectious Diseases of the National Institutes of Health, the National Institute of Allergy and Infectious Diseases (grant numbers R01AI127372, R01AI148963, R01AI151029, 5R01AI089970, and 5R37AI095983), the National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health (grant number 8UL1TR000043), The Rockefeller University, the St. Giles Foundation, The Yale Center for Mendelian Genomics funded by the National Human Genome Research Institute (UM1HG006504), INSERM, University of Paris, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency (ANR) under the “Investments for the future” program (grant number ANR-10-IAHU-01), and GENMSMD (ANR-16-CE17-0005-01 for J. Bustamante). T. LeVoyer is supported by the MD-PhD program of the Imagine Institute with the support of the Bettancourt-Schueller Foundation. Work in Institut Pasteur was supported by grants from Association de la Recherche sur le Cancer (ARC no. 20141201864) and Fondation pour la Re-cherche M{\'e}dicale (grant DEQ. 2017033741) and by institu-tional funding from Institut Pasteur and INSERM. Z. Li was supported by Centre national de la recherche scientifique. L.T. Dynesen was supported by the EU Erasmus+ program. L. Franklin was supported by la Fondation de France (Prix Th{\'e}r{\`e}se Lebrasseur to S. Pellegrini). L. Malle and C. Gruber were supported by National Institute of Child Health and Human Development-Interdisciplinary Training in Systems and Developmental Biology and Birth Defects T32HD075735. Author contributions: M. Martin-Fernandez designed and performed most of the experiments, analyzed the data, and wrote the manuscript. S. Buta, T. Le Voyer, Z. Li, F. Vuillier, L. Franklin, A. Muglia Amancio, L. Malle, C. Gruber, J. Altman, J. Taft, and L.T. Dynesen performed experiments or generated and analyzed data. F. Ailal, I. Benhsaien, C. Deswarte, M. Roy-nard, A. Nieto-Patlan, K. Moriya, J. Rosain, N. Boddaert, A. Bousfiha, Y.J. Crow, D. Jankovic, A. Sher, J.-L. Casanova, and S. Pellegrini provided patient samples, analyzed and/or in-terpreted data, and contributed to the writing of the paper. J. Bustamante and D. Bogunovic helped design the experiments and analyze data, supervised the work, and wrote the manu-script. All authors commented on the manuscript and approved its final version. Funding Information: for J. Bustamante). T. LeVoyer is supported by the MD-PhD program of the Imagine Institute with the support of the Bettancourt-Schueller Foundation. Work in Institut Pasteur was supported by grants from Association de la Recherche sur le Cancer (ARC no. 20141201864) and Fondation pour la Recherche M{\'e}dicale (grant DEQ. 2017033741) and by institutional funding from Institut Pasteur and INSERM. Z. Li was supported by Centre national de la recherche scientifique. L.T. Dynesen was supported by the EU Erasmus+ program. L. Franklin was supported by la Fondation de France (Prix Th{\'e}r{\`e}se Lebrasseur to S. Pellegrini). L. Malle and C. Gruber were supported by National Institute of Child Health and Human Development-Interdisciplinary Training in Systems and Developmental Biology and Birth Defects T32HD075735. Funding Information: This research was in part supported by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases of the National Institutes of Health, the National Institute of Allergy and Infectious Diseases (grant numbers R01AI127372, R01AI148963, R01AI151029, 5R01AI089970, and 5R37AI095983), the National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health (grant number 8UL1TR000043), The Rockefeller University, the St. Giles Foundation, The Yale Center for Mendelian Genomics funded by the National Human Genome Research Institute (UM1HG006504), INSERM, University of Paris, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency (ANR) under the “Investments for the future” program (grant number ANR-10-IAHU-01), and GENMSMD (ANR-16-CE17-0005-01 Publisher Copyright: {\textcopyright} 2022 Martin-Fernandez et al.",

year = "2022",

month = mar,

day = "8",

doi = "https://doi.org/10.1084/jem.20211273",

language = "English",

journal = "Journal of Experimental Medicine",

issn = "0022-1007",

publisher = "ROCKEFELLER UNIV PRESS",

}

Martin-fernandez, M, Buta, S, Le Voyer, T, Li, Z, Dynesen, LTD, Vuillier, F, Franklin, L, Ailal, F, Amanico, AM, Malle, L, Gruber, C, Benhsaien, I, Altman, J, Taft, J, Deswarte, C, Roynard, M, Nieto-Patlan, A, Moriya, K, Rosain, J, Boddaert, N, Bousfiha, A, Crow, YJ, Jankovic, D, Sher, A, Casanova, J-L, Pellegrini, S, Bustamante, J & Bogunovic, D 2022, 'A partial form of inherited human USP18 deficiency underlies infection and inflammation', Journal of Experimental Medicine. https://doi.org/10.1084/jem.20211273

TY - JOUR

T1 - A partial form of inherited human USP18 deficiency underlies infection and inflammation

AU - Martin-fernandez, Marta

AU - Buta, Sofija

AU - Le Voyer, Tom

AU - Li, Zhi

AU - Dynesen, Lasse Toftdal Dynesen

AU - Vuillier, Françoise

AU - Franklin, Lina

AU - Ailal, Fatima

AU - Amanico, Alice Muglia

AU - Malle, Louise

AU - Gruber, Conor

AU - Benhsaien, Ibtihal

AU - Altman, Jennie

AU - Taft, Justin

AU - Deswarte, Caroline

AU - Roynard, Manon

AU - Nieto-Patlan, Alejandro

AU - Moriya, Kunihiko

AU - Rosain, Jérémie

AU - Boddaert, Nathalie

AU - Bousfiha, Aziz

AU - Crow, Yanick J

AU - Jankovic, Dragana

AU - Sher, Alan

AU - Casanova, Jean-Laurent

AU - Pellegrini, Sandra

AU - Bustamante, Jacinta

AU - Bogunovic, Dusan

N1 - Funding Information: This research was in part supported by the Division of In-tramural Research of the National Institute of Allergy and Infectious Diseases of the National Institutes of Health, the National Institute of Allergy and Infectious Diseases (grant numbers R01AI127372, R01AI148963, R01AI151029, 5R01AI089970, and 5R37AI095983), the National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health (grant number 8UL1TR000043), The Rockefeller University, the St. Giles Foundation, The Yale Center for Mendelian Genomics funded by the National Human Genome Research Institute (UM1HG006504), INSERM, University of Paris, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency (ANR) under the “Investments for the future” program (grant number ANR-10-IAHU-01), and GENMSMD (ANR-16-CE17-0005-01 for J. Bustamante). T. LeVoyer is supported by the MD-PhD program of the Imagine Institute with the support of the Bettancourt-Schueller Foundation. Work in Institut Pasteur was supported by grants from Association de la Recherche sur le Cancer (ARC no. 20141201864) and Fondation pour la Re-cherche Médicale (grant DEQ. 2017033741) and by institu-tional funding from Institut Pasteur and INSERM. Z. Li was supported by Centre national de la recherche scientifique. L.T. Dynesen was supported by the EU Erasmus+ program. L. Franklin was supported by la Fondation de France (Prix Thérèse Lebrasseur to S. Pellegrini). L. Malle and C. Gruber were supported by National Institute of Child Health and Human Development-Interdisciplinary Training in Systems and Developmental Biology and Birth Defects T32HD075735. Author contributions: M. Martin-Fernandez designed and performed most of the experiments, analyzed the data, and wrote the manuscript. S. Buta, T. Le Voyer, Z. Li, F. Vuillier, L. Franklin, A. Muglia Amancio, L. Malle, C. Gruber, J. Altman, J. Taft, and L.T. Dynesen performed experiments or generated and analyzed data. F. Ailal, I. Benhsaien, C. Deswarte, M. Roy-nard, A. Nieto-Patlan, K. Moriya, J. Rosain, N. Boddaert, A. Bousfiha, Y.J. Crow, D. Jankovic, A. Sher, J.-L. Casanova, and S. Pellegrini provided patient samples, analyzed and/or in-terpreted data, and contributed to the writing of the paper. J. Bustamante and D. Bogunovic helped design the experiments and analyze data, supervised the work, and wrote the manu-script. All authors commented on the manuscript and approved its final version. Funding Information: for J. Bustamante). T. LeVoyer is supported by the MD-PhD program of the Imagine Institute with the support of the Bettancourt-Schueller Foundation. Work in Institut Pasteur was supported by grants from Association de la Recherche sur le Cancer (ARC no. 20141201864) and Fondation pour la Recherche Médicale (grant DEQ. 2017033741) and by institutional funding from Institut Pasteur and INSERM. Z. Li was supported by Centre national de la recherche scientifique. L.T. Dynesen was supported by the EU Erasmus+ program. L. Franklin was supported by la Fondation de France (Prix Thérèse Lebrasseur to S. Pellegrini). L. Malle and C. Gruber were supported by National Institute of Child Health and Human Development-Interdisciplinary Training in Systems and Developmental Biology and Birth Defects T32HD075735. Funding Information: This research was in part supported by the Division of Intramural Research of the National Institute of Allergy and Infectious Diseases of the National Institutes of Health, the National Institute of Allergy and Infectious Diseases (grant numbers R01AI127372, R01AI148963, R01AI151029, 5R01AI089970, and 5R37AI095983), the National Center for Research Resources and the National Center for Advancing Sciences of the National Institutes of Health (grant number 8UL1TR000043), The Rockefeller University, the St. Giles Foundation, The Yale Center for Mendelian Genomics funded by the National Human Genome Research Institute (UM1HG006504), INSERM, University of Paris, the Integrative Biology of Emerging Infectious Diseases Laboratory of Excellence (ANR-10-LABX-62-IBEID) and the French National Research Agency (ANR) under the “Investments for the future” program (grant number ANR-10-IAHU-01), and GENMSMD (ANR-16-CE17-0005-01 Publisher Copyright: © 2022 Martin-Fernandez et al.

PY - 2022/3/8

Y1 - 2022/3/8

U2 - https://doi.org/10.1084/jem.20211273

DO - https://doi.org/10.1084/jem.20211273

M3 - Article

SN - 0022-1007

JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

ER -