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Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review
DC Field | Value | Language |
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dc.contributor.author | 신재일 | - |
dc.contributor.author | 이금화 | - |
dc.contributor.author | 지헌영 | - |
dc.date.accessioned | 2020-09-29T01:08:59Z | - |
dc.date.available | 2020-09-29T01:08:59Z | - |
dc.date.issued | 2020-06 | - |
dc.identifier.issn | 1568-9972 | - |
dc.identifier.uri | https://ir.ymlib.yonsei.ac.kr/handle/22282913/179414 | - |
dc.description.abstract | Background: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a monogenic disorder characterized by early onset fatal multi-system autoimmunity due to loss-of-function mutations in the gene encoding the forkhead box P3 (FOXP3) transcription factor which is crucial for the development, maturation, and maintenance of CD4+ regulatory T (T-reg) cells. Various autoimmune phenomena such as enteropathy, endocrinopathies, cytopenias, renal disease, and skin manifestations are characteristic findings in patients affected by IPEX syndrome. Objectives: In this systematic review, we focus on both clinical and demographic characteristics of IPEX patients, highlighting possible genotype-phenotype correlations and address prognostic factors for disease outcome. Methods: We performed a literature search to systematically investigate the case reports of IPEX which were published before August 7th, 2017. Results: A total of 75 articles (195 patients) were identified. All IPEX patients included had FOXP3 mutations which were most frequently located in the forkhead domain (n = 68, 34.9%) followed by the leucine-zipper domain (n = 30, 15.4%) and repressor domain (n = 36, 18.4%). Clinical manifestations were as follows: enteropathy (n = 191, 97.9%), skin manifestations (n = 121, 62.1%), endocrinopathy (n = 104, 53.3%), hematologic abnormalities (n = 75, 38.5%), infections (n = 78, 40.0%), other immune-related complications (n = 43, 22.1%), and renal involvement (n = 32, 16.4%). Enteropathic presentations (P = 0.017), eczema (P = 0.030), autoimmune hemolytic anemia (P = 0.022) and food allergy (P = 0.009) were associated with better survival, while thrombocytopenia (P = 0.034), septic shock (P = 0.045) and mutations affecting the repressor domain (P = 0.021), intron 7 (P = 0.033) or poly A sequence (P = 0.025) were associated with increased risk of death. Immunosuppressive therapy alone was significantly associated with increased cumulative survival compared to patients who received no treatment (P = 0.041). Conclusions: We report the most comprehensive summary of demographic and clinical profiles derived from a total of 195 IPEX patients with deleterious mutations in FOXP3. Analysis of our findings provides new insights into genotype/phenotype correlations, and clinical and genetic factors associated with increased risk of death and response to treatment strategies. | - |
dc.description.statementOfResponsibility | restriction | - |
dc.language | English | - |
dc.publisher | Elsevier | - |
dc.relation.isPartOf | AUTOIMMUNITY REVIEWS | - |
dc.rights | CC BY-NC-ND 2.0 KR | - |
dc.subject.MESH | Forkhead Transcription Factors / genetics | - |
dc.subject.MESH | Genetic Diseases, X-Linked* / immunology | - |
dc.subject.MESH | Genetic Diseases, X-Linked* / pathology | - |
dc.subject.MESH | Humans | - |
dc.subject.MESH | Immune System Diseases* / immunology | - |
dc.subject.MESH | Immune System Diseases* / pathology | - |
dc.subject.MESH | Intestinal Diseases* / immunology | - |
dc.subject.MESH | Intestinal Diseases* / pathology | - |
dc.subject.MESH | Mutation | - |
dc.subject.MESH | Polyendocrinopathies, Autoimmune* / immunology | - |
dc.subject.MESH | Polyendocrinopathies, Autoimmune* / pathology | - |
dc.subject.MESH | Syndrome | - |
dc.subject.MESH | T-Lymphocytes, Regulatory / immunology | - |
dc.title | Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome: A systematic review | - |
dc.type | Article | - |
dc.contributor.college | College of Medicine (의과대학) | - |
dc.contributor.department | Dept. of Pediatrics (소아청소년과학교실) | - |
dc.contributor.googleauthor | Jae Hyon Park | - |
dc.contributor.googleauthor | Keum Hwa Lee | - |
dc.contributor.googleauthor | Bokyoung Jeon | - |
dc.contributor.googleauthor | Hans D Ochs | - |
dc.contributor.googleauthor | Joon Suk Lee | - |
dc.contributor.googleauthor | Heon Yung Gee | - |
dc.contributor.googleauthor | Seeun Seo | - |
dc.contributor.googleauthor | Dongil Geum | - |
dc.contributor.googleauthor | Ciriaco A Piccirillo | - |
dc.contributor.googleauthor | Michael Eisenhut | - |
dc.contributor.googleauthor | Hans J van der Vliet | - |
dc.contributor.googleauthor | Jiwon M Lee | - |
dc.contributor.googleauthor | Andreas Kronbichler | - |
dc.contributor.googleauthor | Younhee Ko | - |
dc.contributor.googleauthor | Jae Il Shin | - |
dc.identifier.doi | 10.1016/j.autrev.2020.102526 | - |
dc.contributor.localId | A02142 | - |
dc.contributor.localId | A04622 | - |
dc.contributor.localId | A03971 | - |
dc.relation.journalcode | J03068 | - |
dc.identifier.eissn | 1873-0183 | - |
dc.identifier.pmid | 32234571 | - |
dc.identifier.url | https://www.sciencedirect.com/science/article/pii/S1568997220300811 | - |
dc.subject.keyword | Enteropathy | - |
dc.subject.keyword | FOXP3 mutation | - |
dc.subject.keyword | Genotype-phenotype correlation | - |
dc.subject.keyword | Immune dysregulation | - |
dc.subject.keyword | Polyendocrinopathy | - |
dc.subject.keyword | Systematic review | - |
dc.subject.keyword | X-linked (IPEX) syndrome | - |
dc.contributor.alternativeName | Shin, Jae Il | - |
dc.contributor.affiliatedAuthor | 신재일 | - |
dc.contributor.affiliatedAuthor | 이금화 | - |
dc.contributor.affiliatedAuthor | 지헌영 | - |
dc.citation.volume | 19 | - |
dc.citation.number | 6 | - |
dc.citation.startPage | 102526 | - |
dc.identifier.bibliographicCitation | AUTOIMMUNITY REVIEWS, Vol.19(6) : 102526, 2020-06 | - |
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