Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes

Niovi Setta-Kaffetzi; Alexander A. Navarini; Varsha M. Patel; Venu Pullabhatla; Andrew E. Pink; Siew Eng Choon; Michael A. Allen; A. David Burden; Christopher E.M. Griffiths; Marieke M.B. Seyger; Brian Kirby; Richard C. Trembath; Michael A. Simpson; Catherine H. Smith; Francesca Capon; Jonathan N. Barker

doi:10.1038/jid.2012.490

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes

Niovi Setta-Kaffetzi, Alexander A. Navarini, Varsha M. Patel, Venu Pullabhatla, Andrew E. Pink, Siew Eng Choon, Michael A. Allen, A. David Burden, Christopher E.M. Griffiths, Marieke M.B. Seyger, Brian Kirby, Richard C. Trembath, Michael A. Simpson, Catherine H. Smith, Francesca Capon, Jonathan N. Barker

Research output: Contribution to journal › Letter › Other › peer-review

150 Citations (Scopus)

Original language	English
Pages (from-to)	1366-1369
Number of pages	4
Journal	Journal of Investigative Dermatology
Volume	133
Issue number	5
DOIs	https://doi.org/10.1038/jid.2012.490
Publication status	Published - May 2013
Externally published	Yes

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Setta-Kaffetzi, N., Navarini, A. A., Patel, V. M., Pullabhatla, V., Pink, A. E., Choon, S. E., Allen, M. A., Burden, A. D., Griffiths, C. E. M., Seyger, M. M. B., Kirby, B., Trembath, R. C., Simpson, M. A., Smith, C. H., Capon, F., & Barker, J. N. (2013). Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes. Journal of Investigative Dermatology, 133(5), 1366-1369. https://doi.org/10.1038/jid.2012.490

@article{ee5f79133f0945dfa1c70070b84257e1,

title = "Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes",

author = "Niovi Setta-Kaffetzi and Navarini, {Alexander A.} and Patel, {Varsha M.} and Venu Pullabhatla and Pink, {Andrew E.} and Choon, {Siew Eng} and Allen, {Michael A.} and Burden, {A. David} and Griffiths, {Christopher E.M.} and Seyger, {Marieke M.B.} and Brian Kirby and Trembath, {Richard C.} and Simpson, {Michael A.} and Smith, {Catherine H.} and Francesca Capon and Barker, {Jonathan N.}",

note = "Funding Information: We thank the NHLBI GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison. We acknowledge support from the Department of Health via the NIHR comprehensive Biomedical Research Centre award to GSTT NHS Foundation Trust in partnership with King{\textquoteright}s College London and KCH NHS Foundation Trust. This study was supported by the National Psoriasis Foundation USA (Discovery grant to FC), the British Skin Foundation (studentship 3007s to FC), and the Medical Research Council (grant G0601387 to RCT and JNB). AAN is supported by Swiss National Science Foundation grant PASMP3_140074/WGS and AEP is funded by a MRC/BAD/BSF Clinical Research Training Fellowship. Copyright: Copyright 2018 Elsevier B.V., All rights reserved.",

year = "2013",

month = may,

doi = "10.1038/jid.2012.490",

language = "English",

volume = "133",

pages = "1366--1369",

journal = "Journal of Investigative Dermatology",

issn = "0022-202X",

publisher = "Elsevier",

number = "5",

}

Setta-Kaffetzi, N, Navarini, AA, Patel, VM, Pullabhatla, V, Pink, AE, Choon, SE, Allen, MA, Burden, AD, Griffiths, CEM, Seyger, MMB, Kirby, B, Trembath, RC, Simpson, MA, Smith, CH, Capon, F & Barker, JN 2013, 'Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes', Journal of Investigative Dermatology, vol. 133, no. 5, pp. 1366-1369. https://doi.org/10.1038/jid.2012.490

TY - JOUR

T1 - Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes

AU - Setta-Kaffetzi, Niovi

AU - Navarini, Alexander A.

AU - Patel, Varsha M.

AU - Pullabhatla, Venu

AU - Pink, Andrew E.

AU - Choon, Siew Eng

AU - Allen, Michael A.

AU - Burden, A. David

AU - Griffiths, Christopher E.M.

AU - Seyger, Marieke M.B.

AU - Kirby, Brian

AU - Trembath, Richard C.

AU - Simpson, Michael A.

AU - Smith, Catherine H.

AU - Capon, Francesca

AU - Barker, Jonathan N.

N1 - Funding Information: We thank the NHLBI GO Exome Sequencing Project and its ongoing studies, which produced and provided exome variant calls for comparison. We acknowledge support from the Department of Health via the NIHR comprehensive Biomedical Research Centre award to GSTT NHS Foundation Trust in partnership with King’s College London and KCH NHS Foundation Trust. This study was supported by the National Psoriasis Foundation USA (Discovery grant to FC), the British Skin Foundation (studentship 3007s to FC), and the Medical Research Council (grant G0601387 to RCT and JNB). AAN is supported by Swiss National Science Foundation grant PASMP3_140074/WGS and AEP is funded by a MRC/BAD/BSF Clinical Research Training Fellowship. Copyright: Copyright 2018 Elsevier B.V., All rights reserved.

PY - 2013/5

Y1 - 2013/5

UR - http://www.scopus.com/inward/record.url?scp=84876674307&partnerID=8YFLogxK

U2 - 10.1038/jid.2012.490

DO - 10.1038/jid.2012.490

M3 - Letter

AN - SCOPUS:84876674307

SN - 0022-202X

VL - 133

SP - 1366

EP - 1369

JO - Journal of Investigative Dermatology

JF - Journal of Investigative Dermatology

IS - 5

ER -

Rare pathogenic variants in IL36RN underlie a spectrum of psoriasis-associated pustular phenotypes

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