{"title":"ICOS基因同源突变导致免疫缺陷引起的早发炎性肠病","authors":"Hanife Ayşegül Arsoy, Demet Hafızoğlu, Hatice Zeynep Terzi, Ezgi Işıl Turhan","doi":"10.1080/15513815.2024.2388697","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems.</p><p><strong>Case report: </strong>We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes.</p><p><strong>Discussion/conclusion: </strong>This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.</p>","PeriodicalId":50452,"journal":{"name":"Fetal and Pediatric Pathology","volume":" ","pages":"419-425"},"PeriodicalIF":0.7000,"publicationDate":"2024-09-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":"{\"title\":\"Early Onset Inflammatory Bowel Disease Due to Immunodeficiency as a Result of ICOS Gene Homozygous Mutation.\",\"authors\":\"Hanife Ayşegül Arsoy, Demet Hafızoğlu, Hatice Zeynep Terzi, Ezgi Işıl Turhan\",\"doi\":\"10.1080/15513815.2024.2388697\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Introduction: </strong>Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems.</p><p><strong>Case report: </strong>We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes.</p><p><strong>Discussion/conclusion: </strong>This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.</p>\",\"PeriodicalId\":50452,\"journal\":{\"name\":\"Fetal and Pediatric Pathology\",\"volume\":\" \",\"pages\":\"419-425\"},\"PeriodicalIF\":0.7000,\"publicationDate\":\"2024-09-01\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"\",\"citationCount\":\"0\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Fetal and Pediatric Pathology\",\"FirstCategoryId\":\"3\",\"ListUrlMain\":\"https://doi.org/10.1080/15513815.2024.2388697\",\"RegionNum\":4,\"RegionCategory\":\"医学\",\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2024/8/11 0:00:00\",\"PubModel\":\"Epub\",\"JCR\":\"Q4\",\"JCRName\":\"PATHOLOGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Fetal and Pediatric Pathology","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1080/15513815.2024.2388697","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/8/11 0:00:00","PubModel":"Epub","JCR":"Q4","JCRName":"PATHOLOGY","Score":null,"Total":0}
引用次数: 0
摘要
导言：炎症性肠病（IBD）如果在六岁前发病，则被归类为极早发性IBD（VEO-IBD）。VEO-IBD可能会在胃肠道和非胃肠道系统出现更严重、更耐受的炎症：我们描述了一名 4 岁女性的临床表现，她反复出现血性腹泻、呕吐、腹痛、发热、关节炎、红斑性皮炎和双侧踝关节疼痛。由于她的年龄、不同的临床表现、不典型的胃镜检查结果以及类似克罗恩病的深层透壁溃疡，医生怀疑她患有单基因原发性免疫缺陷病（PID）。基因分析显示，她的诱导性 T 细胞协同刺激因子（ICOS）缺乏基因发生了同源突变：本病例分享了我们的临床经验，并证明了 IBD 进展与 ICOS 缺乏症之间的联系。
Early Onset Inflammatory Bowel Disease Due to Immunodeficiency as a Result of ICOS Gene Homozygous Mutation.
Introduction: Inflammatory bowel disease (IBD) is classified as very early-onset IBD (VEO-IBD) if it occurs before age six. VEO-IBD may progress with more severe and resistant inflammation findings in the gastrointestinal and non-gastrointestinal systems.
Case report: We describe the clinical presentation of a 4-year-old female presenting with recurring episodes of bloody diarrhea, vomiting, abdominal pain, fever, arthritis, erysipelas, and bilateral ankle pain. Monogenic primary immunodeficiency (PID) was suspected due to her age, different clinical findings and the presence of atypical gastroscopic findings and deep transmural ulcerations resembling Crohn's disease. The gene analysis showed a homozygous mutation in the inducible T cell co-stimulator (ICOS) deficiency genes.
Discussion/conclusion: This case presentation shares our clinical experience and demonstrates the link between IBD progression and ICOS deficiency.
期刊介绍：
Fetal and Pediatric Pathology is an established bimonthly international journal that publishes data on diseases of the developing embryo, newborns, children, and adolescents. The journal publishes original and review articles and reportable case reports.
The expanded scope of the journal encompasses molecular basis of genetic disorders; molecular basis of diseases that lead to implantation failures; molecular basis of abnormal placentation; placentology and molecular basis of habitual abortion; intrauterine development and molecular basis of embryonic death; pathogenisis and etiologic factors involved in sudden infant death syndrome; the underlying molecular basis, and pathogenesis of diseases that lead to morbidity and mortality in newborns; prenatal, perinatal, and pediatric diseases and molecular basis of diseases of childhood including solid tumors and tumors of the hematopoietic system; and experimental and molecular pathology.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
