Deborah Pritchard, Arthi Anand, Amy De'Ath, Helena Lee, Margaret Tracey Rees
{"title":"UK NEQAS and BSHI guideline: Laboratory testing and clinical interpretation of HLA genotyping results supporting the diagnosis of coeliac disease","authors":"Deborah Pritchard, Arthi Anand, Amy De'Ath, Helena Lee, Margaret Tracey Rees","doi":"10.1111/iji.12649","DOIUrl":null,"url":null,"abstract":"<p>Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: <i>DQA1*05 DQB1*02, DQB1*03:02</i> or <i>DQA1*02 DQB1*02</i> (commonly referred to as DQ2.5, DQ8 and DQ2.2, respectively). External quality assessment results for HLA genotyping in coeliac disease have revealed concerning errors in HLA genotyping, reporting and clinical interpretation. In response, these guidelines have been developed as an evidence-based approach to guide laboratories undertaking HLA genotyping for coeliac disease and provide recommendations for reports to standardise and improve the communication of results.</p>","PeriodicalId":14003,"journal":{"name":"International Journal of Immunogenetics","volume":"51 S1","pages":"3-20"},"PeriodicalIF":2.3000,"publicationDate":"2023-12-28","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"International Journal of Immunogenetics","FirstCategoryId":"3","ListUrlMain":"https://onlinelibrary.wiley.com/doi/10.1111/iji.12649","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"","PubModel":"","JCR":"Q3","JCRName":"GENETICS & HEREDITY","Score":null,"Total":0}
引用次数: 0
Abstract
Coeliac disease is a common immune-mediated inflammatory disorder caused by dietary gluten in genetically susceptible individuals. While the diagnosis of coeliac disease is based on serological and histological criteria, HLA-DQ genotyping can be useful, especially in excluding the diagnosis in patients who do not carry the relevant DQ heterodimers: DQA1*05 DQB1*02, DQB1*03:02 or DQA1*02 DQB1*02 (commonly referred to as DQ2.5, DQ8 and DQ2.2, respectively). External quality assessment results for HLA genotyping in coeliac disease have revealed concerning errors in HLA genotyping, reporting and clinical interpretation. In response, these guidelines have been developed as an evidence-based approach to guide laboratories undertaking HLA genotyping for coeliac disease and provide recommendations for reports to standardise and improve the communication of results.
期刊介绍：
The International Journal of Immunogenetics (formerly European Journal of Immunogenetics) publishes original contributions on the genetic control of components of the immune system and their interactions in both humans and experimental animals. The term ''genetic'' is taken in its broadest sense to include studies at the evolutionary, molecular, chromosomal functional and population levels in both health and disease. Examples are:
-studies of blood groups and other surface antigens-
cell interactions and immune response-
receptors, antibodies, complement components and cytokines-
polymorphism-
evolution of the organisation, control and function of immune system components-
anthropology and disease associations-
the genetics of immune-related disease: allergy, autoimmunity, immunodeficiency and other immune pathologies-
All papers are seen by at least two independent referees and only papers of the highest quality are accepted.
求助内容：
应助结果提醒方式：
京公网安备 11010802042870号
