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.
摘要：
乳糜泻是在遗传易感个体中由饮食麸质引起的常见免疫介导的炎性疾病。虽然乳糜泻的诊断是基于血清学和组织学标准，HLA-DQ基因分型是有用的，特别是在不携带相关DQ异二聚体的患者中排除诊断：DQA1*05DQB1*02，DQB1*03:02或DQA1*02DQB1*02（通常分别称为DQ2.5，DQ8和DQ2.2）。乳糜泻HLA基因分型的外部质量评估结果揭示了HLA基因分型中的错误，报告和临床解释。作为回应,这些指南已被开发为一种循证方法,用于指导实验室进行乳糜泻HLA基因分型,并为报告提供标准化和改善结果交流的建议.
