Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije E.c. Meuwissen; Rachel Schot; Sofija Buta; Grétel Oudesluijs; Sigrid Tinschert; Scott D. Speer; Zhi Li; Leontine Van Unen; Daphne Heijsman; Tobias Goldmann; Maarten H. Lequin; Johan M. Kros; Wendy Stam; Mark Hermann; Rob Willemsen; Rutger W.w. Brouwer; Wilfred F.j. Van Ijcken; Marta Martin-fernandez; Irenaeus De Coo; Jeroen Dudink; Femke A.t. De Vries; Aida Bertoli Avella; Marco Prinz; Yanick J. Crow; Frans W. Verheijen; Sandra Pellegrini; Dusan Bogunovic; Grazia M.s. Mancini

doi:10.1084/jem.20151529

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

Marije E.c. Meuwissen, Rachel Schot, Sofija Buta, Grétel Oudesluijs, Sigrid Tinschert, Scott D. Speer, Zhi Li, Leontine Van Unen, Daphne Heijsman, Tobias Goldmann, Maarten H. Lequin, Johan M. Kros, Wendy Stam, Mark Hermann, Rob Willemsen, Rutger W.w. Brouwer, Wilfred F.j. Van Ijcken, Marta Martin-fernandez, Irenaeus De Coo, Jeroen DudinkFemke A.t. De Vries, Aida Bertoli Avella, Marco Prinz, Yanick J. Crow, Frans W. Verheijen, Sandra Pellegrini, Dusan Bogunovic, Grazia M.s. Mancini

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

Original language	English
Pages (from-to)	1163-1174
Journal	Journal of Experimental Medicine
Volume	213
Issue number	7
DOIs	https://doi.org/10.1084/jem.20151529
Publication status	Published - 20 Jun 2016

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Meuwissen, M. E. C., Schot, R., Buta, S., Oudesluijs, G., Tinschert, S., Speer, S. D., Li, Z., Van Unen, L., Heijsman, D., Goldmann, T., Lequin, M. H., Kros, J. M., Stam, W., Hermann, M., Willemsen, R., Brouwer, R. W. W., Van Ijcken, W. F. J., Martin-fernandez, M., De Coo, I., ... Mancini, G. M. S. (2016). Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome. Journal of Experimental Medicine, 213(7), 1163-1174. https://doi.org/10.1084/jem.20151529

@article{b316bded91144575b247619e4b77c9d1,

title = "Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome",

author = "Meuwissen, {Marije E.c.} and Rachel Schot and Sofija Buta and Gr{\'e}tel Oudesluijs and Sigrid Tinschert and Speer, {Scott D.} and Zhi Li and {Van Unen}, Leontine and Daphne Heijsman and Tobias Goldmann and Lequin, {Maarten H.} and Kros, {Johan M.} and Wendy Stam and Mark Hermann and Rob Willemsen and Brouwer, {Rutger W.w.} and {Van Ijcken}, {Wilfred F.j.} and Marta Martin-fernandez and {De Coo}, Irenaeus and Jeroen Dudink and {De Vries}, {Femke A.t.} and {Bertoli Avella}, Aida and Marco Prinz and Crow, {Yanick J.} and Verheijen, {Frans W.} and Sandra Pellegrini and Dusan Bogunovic and Mancini, {Grazia M.s.}",

year = "2016",

month = jun,

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doi = "10.1084/jem.20151529",

language = "English",

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Meuwissen, MEC, Schot, R, Buta, S, Oudesluijs, G, Tinschert, S, Speer, SD, Li, Z, Van Unen, L, Heijsman, D, Goldmann, T, Lequin, MH, Kros, JM, Stam, W, Hermann, M, Willemsen, R, Brouwer, RWW, Van Ijcken, WFJ, Martin-fernandez, M, De Coo, I, Dudink, J, De Vries, FAT, Bertoli Avella, A, Prinz, M, Crow, YJ, Verheijen, FW, Pellegrini, S, Bogunovic, D & Mancini, GMS 2016, 'Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome', Journal of Experimental Medicine, vol. 213, no. 7, pp. 1163-1174. https://doi.org/10.1084/jem.20151529

TY - JOUR

T1 - Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TORCH syndrome

AU - Meuwissen, Marije E.c.

AU - Schot, Rachel

AU - Buta, Sofija

AU - Oudesluijs, Grétel

AU - Tinschert, Sigrid

AU - Speer, Scott D.

AU - Li, Zhi

AU - Van Unen, Leontine

AU - Heijsman, Daphne

AU - Goldmann, Tobias

AU - Lequin, Maarten H.

AU - Kros, Johan M.

AU - Stam, Wendy

AU - Hermann, Mark

AU - Willemsen, Rob

AU - Brouwer, Rutger W.w.

AU - Van Ijcken, Wilfred F.j.

AU - Martin-fernandez, Marta

AU - De Coo, Irenaeus

AU - Dudink, Jeroen

AU - De Vries, Femke A.t.

AU - Bertoli Avella, Aida

AU - Prinz, Marco

AU - Crow, Yanick J.

AU - Verheijen, Frans W.

AU - Pellegrini, Sandra

AU - Bogunovic, Dusan

AU - Mancini, Grazia M.s.

PY - 2016/6/20

Y1 - 2016/6/20

U2 - 10.1084/jem.20151529

DO - 10.1084/jem.20151529

M3 - Article

SN - 0022-1007

VL - 213

SP - 1163

EP - 1174

JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

IS - 7

ER -