The majority of generalized pustular psoriasis without psoriasis vulgaris Is caused by deficiency of interleukin-36 receptor antagonist

Kazumitsu Sugiura, Akemi Takemoto, Michiya Yamaguchi, Hidetoshi Takahashi, Yukiko Shoda, Teruyuki Mitsuma, Kenshiro Tsuda, Emi Nishida, Yaei Togawa, Kimiko Nakajima, Akihiro Sakakibara, Shigeo Kawachi, Makoto Shimizu, Yasutomo Ito, Takuya Takeichi, Michihiro Kono, Yasushi Ogawa, Yoshinao Muro, Akemi Ishida-Yamamoto, Shigetoshi SanoHiroyuki Matsue, Akimichi Morita, Hitoshi Mizutani, Hajime Iizuka, Masahiko Muto, Masashi Akiyama

Research output: Contribution to journalArticle

137 Citations (Scopus)

Abstract

Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.

Original languageEnglish
Pages (from-to)2514-2521
Number of pages8
JournalJournal of Investigative Dermatology
Volume133
Issue number11
DOIs
Publication statusPublished - 01-01-2013

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Interleukin Receptors
HLA-A Antigens
Interleukins
Psoriasis
Skin
Mutation

All Science Journal Classification (ASJC) codes

  • Biochemistry
  • Molecular Biology
  • Dermatology
  • Cell Biology

Cite this

Sugiura, Kazumitsu ; Takemoto, Akemi ; Yamaguchi, Michiya ; Takahashi, Hidetoshi ; Shoda, Yukiko ; Mitsuma, Teruyuki ; Tsuda, Kenshiro ; Nishida, Emi ; Togawa, Yaei ; Nakajima, Kimiko ; Sakakibara, Akihiro ; Kawachi, Shigeo ; Shimizu, Makoto ; Ito, Yasutomo ; Takeichi, Takuya ; Kono, Michihiro ; Ogawa, Yasushi ; Muro, Yoshinao ; Ishida-Yamamoto, Akemi ; Sano, Shigetoshi ; Matsue, Hiroyuki ; Morita, Akimichi ; Mizutani, Hitoshi ; Iizuka, Hajime ; Muto, Masahiko ; Akiyama, Masashi. / The majority of generalized pustular psoriasis without psoriasis vulgaris Is caused by deficiency of interleukin-36 receptor antagonist. In: Journal of Investigative Dermatology. 2013 ; Vol. 133, No. 11. pp. 2514-2521.
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title = "The majority of generalized pustular psoriasis without psoriasis vulgaris Is caused by deficiency of interleukin-36 receptor antagonist",
abstract = "Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.",
author = "Kazumitsu Sugiura and Akemi Takemoto and Michiya Yamaguchi and Hidetoshi Takahashi and Yukiko Shoda and Teruyuki Mitsuma and Kenshiro Tsuda and Emi Nishida and Yaei Togawa and Kimiko Nakajima and Akihiro Sakakibara and Shigeo Kawachi and Makoto Shimizu and Yasutomo Ito and Takuya Takeichi and Michihiro Kono and Yasushi Ogawa and Yoshinao Muro and Akemi Ishida-Yamamoto and Shigetoshi Sano and Hiroyuki Matsue and Akimichi Morita and Hitoshi Mizutani and Hajime Iizuka and Masahiko Muto and Masashi Akiyama",
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Sugiura, K, Takemoto, A, Yamaguchi, M, Takahashi, H, Shoda, Y, Mitsuma, T, Tsuda, K, Nishida, E, Togawa, Y, Nakajima, K, Sakakibara, A, Kawachi, S, Shimizu, M, Ito, Y, Takeichi, T, Kono, M, Ogawa, Y, Muro, Y, Ishida-Yamamoto, A, Sano, S, Matsue, H, Morita, A, Mizutani, H, Iizuka, H, Muto, M & Akiyama, M 2013, 'The majority of generalized pustular psoriasis without psoriasis vulgaris Is caused by deficiency of interleukin-36 receptor antagonist', Journal of Investigative Dermatology, vol. 133, no. 11, pp. 2514-2521. https://doi.org/10.1038/jid.2013.230

The majority of generalized pustular psoriasis without psoriasis vulgaris Is caused by deficiency of interleukin-36 receptor antagonist. / Sugiura, Kazumitsu; Takemoto, Akemi; Yamaguchi, Michiya; Takahashi, Hidetoshi; Shoda, Yukiko; Mitsuma, Teruyuki; Tsuda, Kenshiro; Nishida, Emi; Togawa, Yaei; Nakajima, Kimiko; Sakakibara, Akihiro; Kawachi, Shigeo; Shimizu, Makoto; Ito, Yasutomo; Takeichi, Takuya; Kono, Michihiro; Ogawa, Yasushi; Muro, Yoshinao; Ishida-Yamamoto, Akemi; Sano, Shigetoshi; Matsue, Hiroyuki; Morita, Akimichi; Mizutani, Hitoshi; Iizuka, Hajime; Muto, Masahiko; Akiyama, Masashi.

In: Journal of Investigative Dermatology, Vol. 133, No. 11, 01.01.2013, p. 2514-2521.

Research output: Contribution to journalArticle

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T1 - The majority of generalized pustular psoriasis without psoriasis vulgaris Is caused by deficiency of interleukin-36 receptor antagonist

AU - Sugiura, Kazumitsu

AU - Takemoto, Akemi

AU - Yamaguchi, Michiya

AU - Takahashi, Hidetoshi

AU - Shoda, Yukiko

AU - Mitsuma, Teruyuki

AU - Tsuda, Kenshiro

AU - Nishida, Emi

AU - Togawa, Yaei

AU - Nakajima, Kimiko

AU - Sakakibara, Akihiro

AU - Kawachi, Shigeo

AU - Shimizu, Makoto

AU - Ito, Yasutomo

AU - Takeichi, Takuya

AU - Kono, Michihiro

AU - Ogawa, Yasushi

AU - Muro, Yoshinao

AU - Ishida-Yamamoto, Akemi

AU - Sano, Shigetoshi

AU - Matsue, Hiroyuki

AU - Morita, Akimichi

AU - Mizutani, Hitoshi

AU - Iizuka, Hajime

AU - Muto, Masahiko

AU - Akiyama, Masashi

PY - 2013/1/1

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N2 - Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.

AB - Generalized pustular psoriasis (GPP) is a rare inflammatory skin disease that can be life-threatening. Recently, it has been reported that familial GPP is caused by homozygous or compound heterozygous mutations of IL36RN. However, the majority of GPP cases are sporadic and it is controversial whether IL36RN mutations are a causative/predisposing factor for sporadic GPP. We searched for IL36RN mutations in two groups of GPP patients in the Japanese population in this study: GPP without psoriasis vulgaris (PV), and GPP with PV. Eleven cases of GPP without PV (GPP alone) and 20 cases of GPP accompanied by PV (GPP with PV) were analyzed. Surprisingly, 9 out of 11 cases of GPP alone had homozygous or compound heterozygous mutations in IL36RN. In contrast, only 2 of 20 cases of GPP with PV had compound heterozygous mutations in IL36RN. The two cases of GPP with PV who had compound heterozygous mutations in IL36RN are siblings, and both cases had PV-susceptible HLA-A*0206. We determined that GPP alone is a distinct subtype of GPP and is etiologically distinguished from GPP with PV, and that the majority of GPP alone is caused by deficiency of the interleukin-36 receptor antagonist due to IL36RN mutations.

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