Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders
[...]the refractory cases in our cohort were treated with anti–TNF-α agents, and it successfully induced the remission. [...]our study demonstrated that HA20 showed unexpected variation in clinical manifestations. [...]he was identified as having a heterozygous c.2088+5G>C mutation in TNFAIP3 (Fi...
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| Published in | Journal of allergy and clinical immunology Vol. 141; no. 4; pp. 1485 - 1488.e11 |
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| Main Authors | , , , , , , , , , , , , , , , , , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.04.2018
Elsevier Limited |
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| Abstract | [...]the refractory cases in our cohort were treated with anti–TNF-α agents, and it successfully induced the remission. [...]our study demonstrated that HA20 showed unexpected variation in clinical manifestations. [...]he was identified as having a heterozygous c.2088+5G>C mutation in TNFAIP3 (Fig E2). At the age of 1 year, colonoscopy revealed the ulceration of rectum and colon. [...]he was diagnosed as having nonspecific inflammatory bowel disease and treated with mesalazine. |
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| AbstractList | [...]the refractory cases in our cohort were treated with anti–TNF-α agents, and it successfully induced the remission. [...]our study demonstrated that HA20 showed unexpected variation in clinical manifestations. [...]he was identified as having a heterozygous c.2088+5G>C mutation in TNFAIP3 (Fig E2). At the age of 1 year, colonoscopy revealed the ulceration of rectum and colon. [...]he was diagnosed as having nonspecific inflammatory bowel disease and treated with mesalazine. |
| Author | Heike, Toshio Kadowaki, Tomonori Hori, Tomohiro Ito, Shuichi Kobayashi, Chie Ogata, Shohei Ohara, Osamu Nishimura, Kenichi Kawai, Tomoki Nishikomori, Ryuta Kanegane, Hirokazu Shigemura, Tomonari Kawamoto, Norio Ohnishi, Hidenori Fukao, Toshiyuki Hiejima, Eitaro Takagi, Masatoshi Imai, Kohsuke Morio, Tomohiro Inoue, Yuzaburo |
| Author_xml | – sequence: 1 givenname: Tomonori surname: Kadowaki fullname: Kadowaki, Tomonori organization: Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan – sequence: 2 givenname: Hidenori surname: Ohnishi fullname: Ohnishi, Hidenori organization: Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan – sequence: 3 givenname: Norio surname: Kawamoto fullname: Kawamoto, Norio organization: Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan – sequence: 4 givenname: Tomohiro surname: Hori fullname: Hori, Tomohiro organization: Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan – sequence: 5 givenname: Kenichi surname: Nishimura fullname: Nishimura, Kenichi organization: Department of Pediatrics, Yokohama City University, Yokohama, Kanagawa, Japan – sequence: 6 givenname: Chie surname: Kobayashi fullname: Kobayashi, Chie organization: Department of Child Health, Faculty of Medicine, University of Tsukuba, Tsukuba, Ibaraki, Japan – sequence: 7 givenname: Tomonari surname: Shigemura fullname: Shigemura, Tomonari organization: Department of Pediatrics, Shinshu University School of Medicine, Matsumoto, Japan – sequence: 8 givenname: Shohei surname: Ogata fullname: Ogata, Shohei organization: Department of Pediatrics, Kitasato University Hospital, Sagamihara, Kanagawa, Japan – sequence: 9 givenname: Yuzaburo orcidid: 0000-0001-5904-687X surname: Inoue fullname: Inoue, Yuzaburo organization: Department of Pediatrics, Eastern Chiba Medical Center, Chiba, Japan – sequence: 10 givenname: Tomoki surname: Kawai fullname: Kawai, Tomoki organization: Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan – sequence: 11 givenname: Eitaro surname: Hiejima fullname: Hiejima, Eitaro organization: Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan – sequence: 12 givenname: Masatoshi surname: Takagi fullname: Takagi, Masatoshi organization: Department of Community Pediatrics, Perinatal and Maternal Medicine Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan – sequence: 13 givenname: Kohsuke orcidid: 0000-0003-2132-8403 surname: Imai fullname: Imai, Kohsuke organization: Department of Community Pediatrics, Perinatal and Maternal Medicine Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan – sequence: 14 givenname: Ryuta surname: Nishikomori fullname: Nishikomori, Ryuta organization: Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan – sequence: 15 givenname: Shuichi surname: Ito fullname: Ito, Shuichi organization: Department of Pediatrics, Yokohama City University, Yokohama, Kanagawa, Japan – sequence: 16 givenname: Toshio surname: Heike fullname: Heike, Toshio organization: Department of Pediatrics, Kyoto University Hospital, Kyoto, Japan – sequence: 17 givenname: Osamu surname: Ohara fullname: Ohara, Osamu organization: Department of Technology Development, Kazusa DNA Research Institute, Chiba, Japan – sequence: 18 givenname: Tomohiro surname: Morio fullname: Morio, Tomohiro organization: Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan – sequence: 19 givenname: Toshiyuki surname: Fukao fullname: Fukao, Toshiyuki email: toshi-gif@umin.net organization: Department of Pediatrics, Gifu University Graduate School of Medicine, Gifu, Japan – sequence: 20 givenname: Hirokazu surname: Kanegane fullname: Kanegane, Hirokazu email: hkanegane.ped@tmd.ac.jp organization: Department of Pediatrics and Developmental Biology, Graduate School of Medical and Dental Sciences, Tokyo Medical and Dental University, Tokyo, Japan |
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| Snippet | [...]the refractory cases in our cohort were treated with anti–TNF-α agents, and it successfully induced the remission. [...]our study demonstrated that HA20... |
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| SubjectTerms | Adolescent Adult Aged Aging Arthritis Autoimmune diseases Autoimmune Diseases - genetics Autoimmune Diseases - immunology Child Child, Preschool Cytokines Female Fever Genotype & phenotype Haploinsufficiency Haploinsufficiency - genetics Haploinsufficiency - immunology Humans Infant Infant, Newborn Inflammation Inflammation - genetics Inflammation - immunology Lupus Male Mutation Patients Psoriasis Tumor Necrosis Factor alpha-Induced Protein 3 - genetics Tumor Necrosis Factor alpha-Induced Protein 3 - immunology Tumor necrosis factor-TNF Ulcers Young Adult |
| Title | Haploinsufficiency of A20 causes autoinflammatory and autoimmune disorders |
| URI | https://www.clinicalkey.com/#!/content/1-s2.0-S0091674917318857 https://dx.doi.org/10.1016/j.jaci.2017.10.039 https://www.ncbi.nlm.nih.gov/pubmed/29241730 https://www.proquest.com/docview/2021692605 https://www.proquest.com/docview/1977778351 |
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