Xin Rong Lim, Yi Wye Lai, Choon Guan Chua, Yen Loo Lim, Siong See Joyce Lee, Chia Wei Lim, Yu-Hor Bernard Thong, Wei-Lynn Justina Tan
{"title":"Autoimmune manifestations of CTLA-4 haploinsufficiency in two patients of Southeast Asian ethnicity.","authors":"Xin Rong Lim, Yi Wye Lai, Choon Guan Chua, Yen Loo Lim, Siong See Joyce Lee, Chia Wei Lim, Yu-Hor Bernard Thong, Wei-Lynn Justina Tan","doi":"10.5415/apallergy.0000000000000103","DOIUrl":null,"url":null,"abstract":"<p><p>We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.</p>","PeriodicalId":8488,"journal":{"name":"Asia Pacific Allergy","volume":"13 2","pages":"88-90"},"PeriodicalIF":1.6000,"publicationDate":"2023-06-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/69/8d/pa9-13-88.PMC10287108.pdf","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asia Pacific Allergy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5415/apallergy.0000000000000103","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"ALLERGY","Score":null,"Total":0}
引用次数: 0
Abstract
We report 2 patients who first developed cutaneous manifestations, followed by autoimmune phenomena, infections, and hypogammaglobulinemia. They were initially diagnosed with common variable immunodeficiency; however, the diagnosis was revised to cytotoxic T-lymphocyte antigen 4 haploinsufficiency after genetic and functional testing.
期刊介绍：
Asia Pacific Allergy (AP Allergy) is the official journal of the Asia Pacific Association of Allergy, Asthma and Clinical Immunology (APAAACI). Although the primary aim of the journal is to promote communication between Asia Pacific scientists who are interested in allergy, asthma, and clinical immunology including immunodeficiency, the journal is intended to be available worldwide. To enable scientists and clinicians from emerging societies appreciate the scope and intent of the journal, early issues will contain more educational review material. For better communication and understanding, it will include rational concepts related to the diagnosis and management of asthma and other immunological conditions. Over time, the journal will increase the number of original research papers to become the foremost citation journal for allergy and clinical immunology information of the Asia Pacific in the future.
京公网安备 11010802042870号
京ICP备2023020795号-1
分享
求助内容：
应助结果提醒方式：
扫码关注我们
