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The First Case of a Korean Patient with a Mutation-Confirmed Tumor Necrosis Factor Receptor-Associated Periodic Syndrome
DC Field | Value | Language |
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dc.contributor.author | 강지만 | - |
dc.contributor.author | 안종균 | - |
dc.contributor.author | 백지연 | - |
dc.contributor.author | 이석진 | - |
dc.contributor.author | 이지영 | - |
dc.date.accessioned | 2024-05-23T03:12:29Z | - |
dc.date.available | 2024-05-23T03:12:29Z | - |
dc.date.issued | 2024-04 | - |
dc.identifier.issn | 0513-5796 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/199174 | - |
dc.description.abstract | Tumor necrosis factor receptor-associated periodic syndrome (TRAPS, OMIM: #142680) is a rare autoinflammatory disease (AID) with recurrent febrile episodes. To our knowledge, we report herein the first case of a patient with TRAPS in South Korea whose symptoms included fever, arthralgia, abdominal pain, rash, myalgia, cough, and lymphadenopathy. A pathogenic de novo muta tion, c.175T>C (p.Cys59Arg), in the tumor necrosis factor receptor superfamily member 1A (TNFRSF1A) gene, was confirmed by gene sequencing. The patient has been with tocilizumab (an interleukin-6 inhibitor); tocilizumab administration every other week has completely alleviated the patient’s symptoms. Our report further expands the clinical spectrum of patients with TRAPS and reaffirms the use of tocilizumab as a viable alternative treatment option for those patients who are unsatisfactorily responsive to other commonly used biologics, such as canakinumab, anakinra, infliximab, and etanercept. Furthermore, our report may aid in increasing awareness about the existence of mutation-confirmed TRAPS in South Korea in addition to emphasizing the impor tance of actively pursuing genetic testing to correctly diagnose rare AID. | - |
dc.description.statementOfResponsibility | open | - |
dc.format | application/pdf | - |
dc.language | English | - |
dc.publisher | Yonsei University | - |
dc.relation.isPartOf | YONSEI MEDICAL JOURNAL | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Etanercept / therapeutic use | - |
dc.subject.MESH | Fever* / complications | - |
dc.subject.MESH | Hereditary Autoinflammatory Diseases* / diagnosis | - |
dc.subject.MESH | Hereditary Autoinflammatory Diseases* / drug therapy | - |
dc.subject.MESH | Hereditary Autoinflammatory Diseases* / genetics | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Receptors, Tumor Necrosis Factor, Type I / genetics | - |
dc.subject.MESH | Receptors, Tumor Necrosis Factor, Type I / therapeutic use | - |
dc.title | The First Case of a Korean Patient with a Mutation-Confirmed Tumor Necrosis Factor Receptor-Associated Periodic Syndrome | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아과학교실) | - |
dc.contributor.googleauthor | Seok-Jin Lee | - |
dc.contributor.googleauthor | Jee Yeon Baek | - |
dc.contributor.googleauthor | Ji Young Lee | - |
dc.contributor.googleauthor | Ji-Man Kang | - |
dc.contributor.googleauthor | Jong Gyun Ahn | - |
dc.identifier.doi | 10.3349/ymj.2023.0366 | - |
dc.contributor.localId | A05720 | - |
dc.contributor.localId | A02261 | - |
dc.relation.journalcode | J02813 | - |
dc.identifier.eissn | 1976-2437 | - |
dc.identifier.pmid | 38515362 | - |
dc.subject.keyword | TNFRSF1A | - |
dc.subject.keyword | TRAPS | - |
dc.subject.keyword | autoinflammatory disease | - |
dc.subject.keyword | tocilizumab | - |
dc.subject.keyword | tumor necrosis factor receptor-associated periodic syndrome | - |
dc.contributor.alternativeName | Kang, Ji-Man | - |
dc.contributor.affiliatedAuthor | 강지만 | - |
dc.contributor.affiliatedAuthor | 안종균 | - |
dc.citation.volume | 65 | - |
dc.citation.number | 4 | - |
dc.citation.startPage | 241 | - |
dc.citation.endPage | 245 | - |
dc.identifier.bibliographicCitation | YONSEI MEDICAL JOURNAL, Vol.65(4) : 241-245, 2024-04 | - |
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