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Multidimensional etiologic analysis of autoinflammatory keratinization disease

Research Project

Project/Area Number 18K16058
Research Category

Grant-in-Aid for Early-Career Scientists

Allocation TypeMulti-year Fund
Review Section Basic Section 53050:Dermatology-related
Research InstitutionNagoya University

Principal Investigator

Takeichi Takuya  名古屋大学, 医学系研究科, 講師 (30754931)

Project Period (FY) 2018-04-01 – 2023-03-31
Project Status Completed (Fiscal Year 2022)
Budget Amount *help
¥4,160,000 (Direct Cost: ¥3,200,000、Indirect Cost: ¥960,000)
Fiscal Year 2019: ¥1,950,000 (Direct Cost: ¥1,500,000、Indirect Cost: ¥450,000)
Fiscal Year 2018: ¥2,210,000 (Direct Cost: ¥1,700,000、Indirect Cost: ¥510,000)
Keywords角化異常症 / 自己炎症 / 遺伝性皮膚疾患 / 自己炎症性皮膚疾患 / 遺伝子変異
Outline of Final Research Achievements

To elucidate the comprehensive pathogenesis of autoinflammatory keratinization diseases (AiKD) and to obtain basic data directly related to the development of new treatments for AiKDs. Clinical studies provided expanding the spectrum of AiKD phenotypes and making recommendations for the clinical management of generalized pustular psoriasis with incorporating the latest findings. From the experiments using model mice and model cells, we discovered a novel AiKD caused by gain-of-function mutation in the JAK1 gene, and established a novel AiKD model mouse with a gain-of-function variant in the Nlrp1 gene.

Academic Significance and Societal Importance of the Research Achievements

本研究により、AiKDsに含まれる疾患のスペクトラムが拡大し、これまで病因が不明であった難治性のAiKD症例についての遺伝学的診断を行うことができた。各症例の病態メカニズムが明らかになることで、主要な炎症経路を標的としたオーダーメイド治療の開発が期待される。難治性疾患であるAiKD患者のQOL向上に資する成果と考えられる。さらに、AiKDモデルマウスを用いて、既存の治療薬である抗IL-1β抗体製剤の効果を確認することができた。本研究で樹立したモデルマウスやモデル細胞を使うことで、新規の治療薬候補製剤開発のための実験を行うことが可能となる。

Report

(6 results)
  • 2022 Annual Research Report   Final Research Report ( PDF )
  • 2021 Research-status Report
  • 2020 Research-status Report
  • 2019 Research-status Report
  • 2018 Research-status Report
  • Research Products

    (51 results)

All 2022 2021 2020 2019 2018 Other

All Int'l Joint Research (1 results) Journal Article (30 results) (of which Int'l Joint Research: 2 results,  Peer Reviewed: 28 results,  Open Access: 6 results) Presentation (20 results) (of which Invited: 2 results)

  • [Int'l Joint Research] キングスカレッジロンドン(英国)

    • Related Report
      2018 Research-status Report
  • [Journal Article] UVB-Induced Skin Autoinflammation Due to Nlrp1b Mutation and Its Inhibition by Anti-IL-1β Antibody2022

    • Author(s)
      Murase Yuya、Takeichi Takuya、Koseki Jun、Miyasaka Yuki、Muro Yoshinao、Ohno Tamio、Shimamura Teppei、Akiyama Masashi
    • Journal Title

      Frontiers in Immunology

      Volume: 13 Pages: 876390-876390

    • DOI

      10.3389/fimmu.2022.876390

    • Related Report
      2022 Annual Research Report
    • Peer Reviewed / Open Access
  • [Journal Article] Autoinflammatory Keratinization Disease With Hepatitis and Autism Reveals Roles for JAK1 Kinase Hyperactivity in Autoinflammation.2022

    • Author(s)
      Takeichi T, Lee JYW, Okuno Y, Miyasaka Y, Murase Y, Yoshikawa T, Tanahashi K, Nishida E, Okamoto T, Ito K, Muro Y, Sugiura K, Ohno T, McGrath JA, Akiyama M.
    • Journal Title

      Front Immunol.

      Volume: 12 Pages: 737747-737747

    • DOI

      10.3389/fimmu.2021.737747

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access / Int'l Joint Research
  • [Journal Article] Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant heterozygote.2021

    • Author(s)
      Murase C, Takeichi T, Sugiura K, Akiyama M.
    • Journal Title

      J Dermatol

      Volume: 48 Issue: 4

    • DOI

      10.1111/1346-8138.15795

    • NAID

      120007164850

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] Altered replication stress response due to CARD14 mutations promotes recombination-induced revertant mosaicism2021

    • Author(s)
      Miyauchi Toshinari、Suzuki Shotaro、Takeda Masae、Peh Jin Teng、Aiba Masayuki、Natsuga Ken、Fujita Yasuyuki、Takeichi Takuya、Sakamoto Taiko、Akiyama Masashi、Shimizu Hiroshi、Nomura Toshifumi
    • Journal Title

      The American Journal of Human Genetics

      Volume: 108 Issue: 6 Pages: 1026-1039

    • DOI

      10.1016/j.ajhg.2021.04.021

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Paradoxical Reaction in a Patient with Hidradenitis Suppurativa Undergoing Adalimumab Treatment.2021

    • Author(s)
      Ikeya S, Takeichi T, Taki T, Muro Y, Ogi T, Akiyama M.
    • Journal Title

      Acta Derm Venereol.

      Volume: 101 Issue: 6 Pages: adv00484-adv00484

    • DOI

      10.2340/00015555-3844

    • Related Report
      2021 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Case of annular pustular psoriasis / circinate erythematous psoriasis induced by hydroxychloroquine in a patient with systemic lupus erythematosus: Possible association with CARD-14 mutation2021

    • Author(s)
      Midorikawa H, Kiniwa Y, Minagawa A, Osawa K, Shirai T, Sano T, Nakamura K, Ashida A, Ueno K, Takeichi T, Akiyama M, Okuyama R
    • Journal Title

      J Dermatol

      Volume: 48 Issue: 9

    • DOI

      10.1111/1346-8138.15976

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] A case of generalised pustular psoriasis with bullous pemphigoid showing spongiform pustule of Kogoj with eosinophils.2021

    • Author(s)
      Nozaki H, Iinuma S, Komatsu S, Hashimoto Y, Shibaki H, Takeichi T, Ishii N, Akiyama M, Honma M, Ishida-Yamamoto A.
    • Journal Title

      Eur J Dermatol.

      Volume: 31 Issue: 5 Pages: 660-662

    • DOI

      10.1684/ejd.2021.4138

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] 【好中球が関与する皮膚病】掌蹠膿疱症治療中に膿疱性乾癬を発症し,グセルクマブが奏効した例2021

    • Author(s)
      今井 聡子, 澤 美麗, 吉川 真人, 井上 優貴, 武市 拓也, 澤田 昌樹
    • Journal Title

      皮膚病診療

      Volume: 43 Pages: 448-451

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] 症例からみる自己炎症性角化症(case7) 毛孔性紅色粃糠疹(CARD14変異による)2021

    • Author(s)
      村上 めぐみ, 武市 拓也
    • Journal Title

      Visual Dermatology

      Volume: 20 Pages: 696-699

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] 症例からみる自己炎症性角化症(case10) 汗孔角化症、播種状表在性汗孔角化症(MVKなどの変異による)2021

    • Author(s)
      牧原 実紗子, 武市 拓也
    • Journal Title

      Visual Dermatology

      Volume: 20 Pages: 709-711

    • Related Report
      2021 Research-status Report
    • Peer Reviewed
  • [Journal Article] 当院で経験したCARD14関連乾癬の3例2021

    • Author(s)
      水谷 陽子, 藤井 建人, 川村 美保, 丹羽 宏文, 清島 真理子, 大西 秀典, 武市 拓也, 秋山 真志
    • Journal Title

      角化症研究会記録集

      Volume: 35 Pages: 86-91

    • Related Report
      2021 Research-status Report
  • [Journal Article] 露光部を中心に再燃がみられた毛孔性紅色粃糠疹(V型)の1症例2021

    • Author(s)
      加藤 塁, 木村 有太子, 金子 高英, 高森 建二, 須賀 康, 武市 拓也, 秋山 真志
    • Journal Title

      角化症研究会記録集

      Volume: 35 Pages: 92-96

    • Related Report
      2021 Research-status Report
  • [Journal Article] A patient with CARD14-associated papulosquamous eruptions showing atopic dermatitis-like features.2021

    • Author(s)
      Takeichi T, Terawaki S, Kubota Y, Ito Y, Tanahashi K, Muro Y, Akiyama M.
    • Journal Title

      J Eur Acad Dermatol Venereol.

      Volume: 35 Issue: 1

    • DOI

      10.1111/jdv.16799

    • Related Report
      2020 Research-status Report
    • Peer Reviewed
  • [Journal Article] Systemic inflammatory diseases due to germ line EGFR mutations, with features suggestive of autoinflammatory keratinization diseases.2021

    • Author(s)
      Takeichi T, Akiyama M.
    • Journal Title

      J Dermatol.

      Volume: 48 Issue: 1

    • DOI

      10.1111/1346-8138.15612

    • Related Report
      2020 Research-status Report
    • Peer Reviewed
  • [Journal Article] Generalized pustular psoriasis associated with systemic lupus erythematosus successfully treated with secukinumab.2021

    • Author(s)
      Akaji K, Nakagawa Y, Kakuda K, Takafuji M, Kiyohara E, Murase C, Takeichi T, Akiyama M, Fujimoto M.
    • Journal Title

      J Dermatol.

      Volume: 48 Issue: 1

    • DOI

      10.1111/1346-8138.15645

    • Related Report
      2020 Research-status Report
    • Peer Reviewed
  • [Journal Article] Two Cases of Porokeratosis with MVD Mutations, in Association with Bullous Pemphigoid.2021

    • Author(s)
      Arisawa Y, Ito Y, Tanahashi K, Muro Y, Ogi T, Takeichi T, Akiyama M.
    • Journal Title

      Acta Derm Venereol.

      Volume: 101 Issue: 3 Pages: adv00423-adv00423

    • DOI

      10.2340/00015555-3764

    • Related Report
      2020 Research-status Report
    • Peer Reviewed
  • [Journal Article] Generalized Pustular Psoriasis: Clinical Management and Update on Autoinflammatory Aspects.2020

    • Author(s)
      Takeichi T, Akiyama M.
    • Journal Title

      Am J Clin Dermatol.

      Volume: 21 Issue: 2 Pages: 227-236

    • DOI

      10.1007/s40257-019-00492-0

    • NAID

      120006869630

    • Related Report
      2020 Research-status Report 2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] KLICK Syndrome Linked to a POMP Mutation Has Features Suggestive of an Autoinflammatory Keratinization Disease.2020

    • Author(s)
      Takeichi T, Akiyama M.
    • Journal Title

      Front Immunol.

      Volume: 11 Pages: 641-641

    • DOI

      10.3389/fimmu.2020.00641

    • Related Report
      2020 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] Successful secukinumab treatment of recalcitrant juvenile generalized pustular psoriasis.2020

    • Author(s)
      Nishida M, Takeichi T, Kono M, Imanishi A, Maekawa N, Akiyama M, Fukai K.
    • Journal Title

      J Dermatol.

      Volume: 47 Issue: 3

    • DOI

      10.1111/1346-8138.15228

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] A novel NCSTN missense mutation in the signal peptide domain causes hidradenitis suppurativa, which has features characteristic of an autoinflammatory keratinization disease.2020

    • Author(s)
      Takeichi T, Matsumoto T, Nomura T, Takeda M, Niwa H, Kono M, Shimizu H, Ogi T, Akiyama M.
    • Journal Title

      Br J Dermatol.

      Volume: 182 Issue: 2 Pages: 491-493

    • DOI

      10.1111/bjd.18445

    • Related Report
      2019 Research-status Report
    • Peer Reviewed / Open Access
  • [Journal Article] A case of pustular psoriasis possibly precipitated by periodic oestrogen/gestagen therapy for Turner syndrome.2019

    • Author(s)
      Shiratori T, Takeichi T, Kono M, Nishida M, Imanishi A, Maekawa N, Kawamura N, Fukai K.
    • Journal Title

      Clin Exp Dermatol.

      Volume: 44 Issue: 7

    • DOI

      10.1111/ced.13979

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Acrodermatitis continua of Hallopeau with dense infiltration of IgG4-positive cells in the lesional dermis.2019

    • Author(s)
      Ogawa-Momohara M, Muro Y, Nakaguro M, Takeichi T, Kono M, Akiyama M.
    • Journal Title

      Br J Dermatol.

      Volume: 180 Issue: 4 Pages: 941-942

    • DOI

      10.1111/bjd.17405

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Aberrant CARD14 function might cause defective barrier formation.2019

    • Author(s)
      Murase Y, Takeichi T, Akiyama M.
    • Journal Title

      J Allergy Clin Immunol.

      Volume: 143 Issue: 4 Pages: 1656-1657

    • DOI

      10.1016/j.jaci.2018.11.044

    • NAID

      120006652417

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Familial or sporadic porokeratosis as an autoinflammatory keratinization disease.2019

    • Author(s)
      Takeichi T, Akiyama M.
    • Journal Title

      J Dermatol.

      Volume: 46 Issue: 4

    • DOI

      10.1111/1346-8138.14666

    • NAID

      120006652416

    • Related Report
      2019 Research-status Report
    • Peer Reviewed
  • [Journal Article] Case of adult-onset Still's disease with psoriasiform eruptions.2019

    • Author(s)
      Ito Y, Takeichi T, Koide T, Akiyama M.
    • Journal Title

      J Dermatol.

      Volume: 46 Issue: 3

    • DOI

      10.1111/1346-8138.14613

    • NAID

      120006643287

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] An infant with generalized pustular psoriasis and geographic tongue had a heterozygous IL36RN mutation and IgG2 deficiency.2018

    • Author(s)
      Oi R, Takeichi T, Okuno Y, Kojima D, Sugawara K, Kono M, Muramatsu H, Akiyama M
    • Journal Title

      J Dermatol Sci.

      Volume: 印刷中 Issue: 2 Pages: 216-218

    • DOI

      10.1016/j.jdermsci.2018.01.017

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Impetigo herpetiformis with IL-36RN mutation successfully treated with secukinumab.2018

    • Author(s)
      Kinoshita M, Ogawa Y, Takeichi T, Okamoto T, Osada A, Shimada S, Sugiura K, Akiyama M, Kawamura T, Tsukamoto K.
    • Journal Title

      Eur J Dermatol.

      Volume: 28 Issue: 3 Pages: 381-382

    • DOI

      10.1684/ejd.2018.3259

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Two cases of generalized pustular psoriasis complicated by IgG4-related disease.2018

    • Author(s)
      Miyazawa H, Fujita Y, Iwata H, Ishikawa Y, Nishio S, Ishijima K, Shinmei Y, Takeichi T, Goto K, Oi R, Akiyama M, Shimizu H.
    • Journal Title

      Br J Dermatol.

      Volume: 179 Pages: 537-539

    • DOI

      10.1111/bjd.16712

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Deficiency of the interleukin-36 receptor antagonist dramatically improved by secukinumab.2018

    • Author(s)
      Kinoshita M, Okamoto T, Sano S, Mitsui H, Takeichi T, Sugiura K, Akiyama M, Shimada S, Kawamura T.
    • Journal Title

      J Dermatol

      Volume: 45 Issue: 10

    • DOI

      10.1111/1346-8138.14330

    • Related Report
      2018 Research-status Report
    • Peer Reviewed
  • [Journal Article] Autoinflammatory keratinization diseases: an emerging concept encompassing various inflammatory keratinization disorders of the skin.2018

    • Author(s)
      Akiyama M, Takeichi T, McGrath JA, Sugiura K.
    • Journal Title

      J Dermatol Sci

      Volume: 90 Issue: 2 Pages: 105-111

    • DOI

      10.1016/j.jdermsci.2018.01.012

    • NAID

      120006517661

    • Related Report
      2018 Research-status Report
    • Peer Reviewed / Int'l Joint Research
  • [Presentation] 異なった臨床経過を呈したCARD14関連乾癬の3例2020

    • Author(s)
      水谷陽子、藤井建人、川村美保、二羽宏文、大西秀典、武市拓也、清島真理子
    • Organizer
      第35回日本乾癬学会学術大会
    • Related Report
      2020 Research-status Report
  • [Presentation] アダリムマブ投与中に乾癬様皮疹を呈した化膿性汗腺炎の1例2020

    • Author(s)
      池谷宗一郎、武市拓也、秋山真志
    • Organizer
      第35回日本乾癬学会学術大会
    • Related Report
      2020 Research-status Report
  • [Presentation] 水疱性類天疱瘡を合併した汗孔角化症の1例2020

    • Author(s)
      有沢友希、武市拓也、棚橋華奈、秋山真志
    • Organizer
      第464回日本皮膚科学会京滋地方会田中俊宏教授退任記念地方会
    • Related Report
      2020 Research-status Report
  • [Presentation] 当院で経験したCARD14関連乾癬の3例2020

    • Author(s)
      水谷陽子、藤井建人、川村美保、二羽宏文、大西秀典、武市拓也、清島真理子
    • Organizer
      第35回角化症研究会
    • Related Report
      2020 Research-status Report
  • [Presentation] 日光曝露により皮疹が再燃したと考えられるCARD14関連毛孔性紅色粃糠疹の1例2020

    • Author(s)
      加藤 塁、髙森建二、須賀 康、武市拓也、秋山真志
    • Organizer
      第35回角化症研究会
    • Related Report
      2020 Research-status Report
  • [Presentation] Acute generalized exanthematous pustulosis triggered by acetaminophen in an IL36RN variant allele heterozygote.2020

    • Author(s)
      Chiaki Murase, Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama
    • Organizer
      The 45th Annual Meeting of The Japanese Society for Investigative Dermatology
    • Related Report
      2020 Research-status Report
  • [Presentation] Discovering and identifying novel genetic pathomechanisms for autoinflammatory keratinization diseases2020

    • Author(s)
      Takuya Takeichi
    • Organizer
      The 45th Annual Meeting of The Japanese Society for Investigative Dermatology
    • Related Report
      2020 Research-status Report
  • [Presentation] IL36RN遺伝子変異を同定した小児膿疱性乾癬の1例2019

    • Author(s)
      西田麻里奈、今西明子、前川直輝、武市拓也、河野通浩、深井和吉
    • Organizer
      第118回日本皮膚科学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] Aberrant CARD14 function might cause defective barrier formation2019

    • Author(s)
      Yuya Murase, Takuya Takeichi, Masashi Akiyama
    • Organizer
      第118回日本皮膚科学会総会
    • Related Report
      2019 Research-status Report
  • [Presentation] 皮膚バリア機能異常の合併が示唆された、CARD14 variant関連毛孔性紅色粃糠疹の小児例2019

    • Author(s)
      村瀬友哉、武市拓也、秋山真志
    • Organizer
      第34回日本乾癬学会学術大会
    • Related Report
      2019 Research-status Report
  • [Presentation] 臨床研究を楽しもう―Gene hunting を楽しむ―2019

    • Author(s)
      武市拓也
    • Organizer
      第70回日本皮膚科学会中部支部学術大会
    • Related Report
      2019 Research-status Report
    • Invited
  • [Presentation] Pityriasis rubra pilaris type V as an autoinflammatory keratinization disease by CARD14 mutations2019

    • Author(s)
      Takuya Takeichi, Kazumitsu Sugiura, Masashi Akiyama
    • Organizer
      The 44th Annual Meeting of The Japanese Society for Investigative Dermatology
    • Related Report
      2019 Research-status Report
  • [Presentation] Autoinflammatory keratinization diseaseとしての膿疱性乾癬 病態から治療まで2018

    • Author(s)
      武市拓也
    • Organizer
      第82回日本皮膚科学会東部支部学術大会
    • Related Report
      2018 Research-status Report
    • Invited
  • [Presentation] 3歳で発症した尋常性乾癬2018

    • Author(s)
      村上めぐみ、日高友梨、水野絵里香、白井三由希、相山明輝、満間照之、加藤元一、武市拓也
    • Organizer
      第117回日本皮膚科学会総会
    • Related Report
      2018 Research-status Report
  • [Presentation] Turner症候群に合併した膿疱性乾癬の1例2018

    • Author(s)
      白鳥隆宏、今西明子、前川直輝、武市拓也、河野通浩、深井和吉
    • Organizer
      第117回日本皮膚科学会総会
    • Related Report
      2018 Research-status Report
  • [Presentation] 急性期離脱に顆粒球吸着療法が有効で完全寛解にセクキヌマブが奏功した膿疱性乾癬の1例2018

    • Author(s)
      今西明子、白鳥隆宏、前川直輝、武市拓也、河野通浩、深井和吉
    • Organizer
      第117回日本皮膚科学会総会
    • Related Report
      2018 Research-status Report
  • [Presentation] CARD14の変異/variantを有する毛孔性紅色粃糠疹V型の1例2018

    • Author(s)
      秋山真志、武市拓也、須賀 康、杉浦一充
    • Organizer
      第284回日本皮膚科学会東海地方会
    • Related Report
      2018 Research-status Report
  • [Presentation] 地図状舌とIgG2欠損症を合併した、Interleukin-36受容体拮抗因子欠損症の乳児例2018

    • Author(s)
      大井梨紗子、武市拓也、秋山真志
    • Organizer
      第33回日本乾癬学会学術大会
    • Related Report
      2018 Research-status Report
  • [Presentation] 膿疱性乾癬治療中に結節性紅斑を発症したDITRAの1例2018

    • Author(s)
      綾野悠加、立石千晴、深井和吉、武市拓也、河野通浩、秋山真志、鶴田大輔
    • Organizer
      第33回日本乾癬学会学術大会
    • Related Report
      2018 Research-status Report
  • [Presentation] IgG4陽性形質細胞の密な浸潤を認めたアロポー稽留性肢端皮膚炎の一例2018

    • Author(s)
      桃原真理子、室慶直、武市拓也、中黒匡人、河野通浩、秋山真志
    • Organizer
      第48回日本皮膚免疫アレルギー学会学術大会
    • Related Report
      2018 Research-status Report

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Published: 2018-04-23   Modified: 2024-01-30  

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