ABSTRACT

Background: Common variable immunodeficiency (CVID) is the most common symptomatic primary immunodeficiency. Certain gene loci are pointed out in several studies in CVID patients. Until now, monogenic defects have been identified in only 2-10% of CVID patients; therefore, association of the disease with HLA alleles may be important for elucidating immunological and genetic mechanisms behind CVID. The aim of this study is to investigate the relationship between CVID and HLA alleles. Methods: HLA class I/II alleles were analyzed in 65 patients with CVID and alleles that may be related to disease susceptibility were determined by comparing with 300 healthy controls. We also evaluated HLA allele frequencies in CVID patients with gastrointestial system (GIS) involvement and autoimmune manifestations. Results: When compared with controls, frequencies of B*27, B*35, C*04, and DRB1*04 alleles were significantly different in patients with CVID (p < .05). Frequencies of C*12, DRB1*13, and DRB1*15 alleles were more frequent in controls, indicating protective alleles (p < .05). There was a statistically significant difference for DQ2 and DQ8 haplotypes between patients with GIS involvement and controls. Conclusion: In comparison with literature, distinctive HLA alleles found in our study may originate from the diversity in gene pool between the populations. These data may provide clues for disease susceptibility.

摘要

背景：常见变异免疫缺陷（CVID）是最常见的有症状的原发性免疫缺陷。在 CVID 患者的几项研究中指出了某些基因位点。到目前为止，仅在 2-10% 的 CVID 患者中发现了单基因缺陷；因此，该疾病与 HLA 等位基因的关联对于阐明 CVID 背后的免疫学和遗传机制可能很重要。本研究的目的是调查 CVID 和 HLA 等位基因之间的关系。方法：分析65例CVID患者的HLA I/II类等位基因，与300例健康对照者比较，确定可能与疾病易感性相关的等位基因。我们还评估了具有胃肠系统 (GIS) 受累和自身免疫表现的 CVID 患者的 HLA 等位基因频率。结果：与对照组相比，p < .05）。C*12、DRB1*13 和 DRB1*15 等位基因在对照中的频率更高，表明保护性等位基因 ( p < .05)。DQ2 和 DQ8 单倍型在 GIS 受累患者和对照组之间存在统计学显着差异。结论：与文献相比，我们研究中发现的独特 HLA 等位基因可能源于种群之间基因库的多样性。这些数据可能为疾病易感性提供线索。