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 Dudink

Femke 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

240 Citations (Scopus)

44 Downloads (Pure)

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

Research programs

EMC MGC-02-02-01
EMC MGC-02-13-02
EMC MGC-02-96-01
EMC MM-03-24-01
EMC MM-03-44-06
EMC MM-03-54-04-A
EMC MM-04-44-02

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10.1084/jem.20151529

REPUB_96411_OA.pdfFinal published version, 2.09 MB

http://hdl.handle.net/1765/96411

Cite this

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

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year = "2016",

doi = "10.1084/jem.20151529",

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pages = "1163--1174",

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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

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

C2 - 27325888

SN - 0022-1007

VL - 213

SP - 1163

EP - 1174

JO - Journal of Experimental Medicine

JF - Journal of Experimental Medicine

IS - 7

ER -