Department of Pediatric Gastroenterology, University Medical Center Utrecht, Utrecht, The Netherlands.
J Pediatr Gastroenterol Nutr. 2013 Apr;56(4):428-30. doi: 10.1097/MPG.0b013e31827913f9.
Patients with celiac disease (CD) lacking both human leukocyte antigen (HLA)-DQ2.5 in cis (DQA105:01, DQB102:01) or trans (DQA105:05, DQB102:02) configuration and HLA-DQ8 (DQA103:01, DQB103:02) are considered to be rare. Therefore, absence of these genotypes is commonly used to exclude the diagnosis of CD. To investigate whether this approach is justified, the HLA-distribution in 155 children with CD was studied. A total of 139 (89.7%) patients carried HLA-DQ2.5. Of the remaining patients, 7 (4.5%) carried HLA-DQ8. Interestingly, the 9 (5.8%) patients lacking HLA-DQ2.5 and HLA-DQ8 carried HLA-DQA102:01 and -DQB102:02 (HLA-DQ2.2). Therefore, HLA-DQ2.2 should be included as an important HLA-type related to CD.
缺乏顺式(DQA105:01,DQB102:01)或反式(DQA105:05,DQB102:02)人类白细胞抗原(HLA)-DQ2.5且不携带 HLA-DQ8(DQA103:01,DQB103:02)的乳糜泻(CD)患者被认为较为罕见。因此,这些基因型的缺失通常用于排除 CD 的诊断。为了研究这种方法是否合理,研究人员研究了 155 名 CD 患儿的 HLA 分布。共有 139 名(89.7%)患者携带 HLA-DQ2.5。其余患者中,有 7 名(4.5%)携带 HLA-DQ8。有趣的是,9 名(5.8%)缺乏 HLA-DQ2.5 和 HLA-DQ8 的患者携带 HLA-DQA102:01 和-DQB102:02(HLA-DQ2.2)。因此,HLA-DQ2.2 应被视为与 CD 相关的重要 HLA 类型。