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

Marije Meuwissen; Rachel Schot; S Buta; Grietje Oudesluijs; S Tinschert; SD Speer; Z Li; Leontine Unen; Daphne Heijsman; T Goldmann; MH Lequin; J.M. Kros; W (Wendy) Stam; M Hermann; Rob Willemsen; Rutger Brouwer; Wilfred van Ijcken; M Martin-Fernandez; IFM Coo; J Dudink; Femke Vries; AM Bertoli Avella; M Prinz; YJ Crow; Frans Verheijen; S Pellegrini; D Bogunovic; Grazia Verheijen - Mancini

doi:10.1084/jem.20151529

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

Marije Meuwissen, Rachel Schot, S Buta, Grietje Oudesluijs, S Tinschert, SD Speer, Z Li, Leontine Unen, Daphne Heijsman, T Goldmann, MH Lequin, J.M. Kros, W (Wendy) Stam, M Hermann, Rob Willemsen, Rutger Brouwer, Wilfred van Ijcken, M Martin-Fernandez, IFM Coo, J DudinkFemke Vries, AM Bertoli Avella, M Prinz, YJ Crow, Frans Verheijen, S Pellegrini, D Bogunovic, Grazia Verheijen - Mancini

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

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Original language	Undefined/Unknown
Pages (from-to)	1163-1174
Number of pages	12
Journal	Journal of Experimental Medicine
Volume	213
Issue number	7
DOIs	https://doi.org/10.1084/jem.20151529
Publication status	Published - 2016

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Meuwissen, M., Schot, R., Buta, S., Oudesluijs, G., Tinschert, S., Speer, SD., Li, Z., Unen, L., Heijsman, D., Goldmann, T., Lequin, MH., Kros, J. M., Stam, W., Hermann, M., Willemsen, R., Brouwer, R., van Ijcken, W., Martin-Fernandez, M., Coo, IFM., ... Verheijen - Mancini, G. (2016). Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome. Journal of Experimental Medicine, 213(7), 1163-1174. https://doi.org/10.1084/jem.20151529

Meuwissen, Marije ; Schot, Rachel ; Buta, S ; Oudesluijs, Grietje ; Tinschert, S ; Speer, SD ; Li, Z ; Unen, Leontine ; Heijsman, Daphne ; Goldmann, T ; Lequin, MH ; Kros, J.M. ; Stam, W (Wendy) ; Hermann, M ; Willemsen, Rob ; Brouwer, Rutger ; van Ijcken, Wilfred ; Martin-Fernandez, M ; Coo, IFM ; Dudink, J ; Vries, Femke ; Bertoli Avella, AM ; Prinz, M ; Crow, YJ ; Verheijen, Frans ; Pellegrini, S ; Bogunovic, D ; Verheijen - Mancini, Grazia. / Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome. In: Journal of Experimental Medicine. 2016 ; Vol. 213, No. 7. pp. 1163-1174.

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author = "Marije Meuwissen and Rachel Schot and S Buta and Grietje Oudesluijs and S Tinschert and SD Speer and Z Li and Leontine Unen and Daphne Heijsman and T Goldmann and MH Lequin and J.M. Kros and Stam, {W (Wendy)} and M Hermann and Rob Willemsen and Rutger Brouwer and {van Ijcken}, Wilfred and M Martin-Fernandez and IFM Coo and J Dudink and Femke Vries and {Bertoli Avella}, AM and M Prinz and YJ Crow and Frans Verheijen and S Pellegrini and D Bogunovic and {Verheijen - Mancini}, Grazia",

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doi = "10.1084/jem.20151529",

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

Human USP18 deficiency underlies type 1 interferonopathy leading to severe pseudo-TOR CH syndrome. / Meuwissen, Marije; Schot, Rachel; Buta, S; Oudesluijs, Grietje; Tinschert, S; Speer, SD; Li, Z; Unen, Leontine ; Heijsman, Daphne; Goldmann, T; Lequin, MH; Kros, J.M.; Stam, W (Wendy); Hermann, M; Willemsen, Rob ; Brouwer, Rutger ; van Ijcken, Wilfred; Martin-Fernandez, M; Coo, IFM; Dudink, J; Vries, Femke; Bertoli Avella, AM; Prinz, M; Crow, YJ; Verheijen, Frans; Pellegrini, S; Bogunovic, D; Verheijen - Mancini, Grazia.

In: Journal of Experimental Medicine, Vol. 213, No. 7, 2016, p. 1163-1174.

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

TY - JOUR

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

AU - Meuwissen, Marije

AU - Schot, Rachel

AU - Buta, S

AU - Oudesluijs, Grietje

AU - Tinschert, S

AU - Speer, SD

AU - Li, Z

AU - Unen, Leontine

AU - Heijsman, Daphne

AU - Goldmann, T

AU - Lequin, MH

AU - Kros, J.M.

AU - Stam, W (Wendy)

AU - Hermann, M

AU - Willemsen, Rob

AU - Brouwer, Rutger

AU - van Ijcken, Wilfred

AU - Martin-Fernandez, M

AU - Coo, IFM

AU - Dudink, J

AU - Vries, Femke

AU - Bertoli Avella, AM

AU - Prinz, M

AU - Crow, YJ

AU - Verheijen, Frans

AU - Pellegrini, S

AU - Bogunovic, D

AU - Verheijen - Mancini, Grazia

PY - 2016

Y1 - 2016

U2 - 10.1084/jem.20151529

DO - 10.1084/jem.20151529

M3 - Article

VL - 213

SP - 1163

EP - 1174

JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

SN - 0022-1007

IS - 7

ER -