Kartal Ozgur, Musabak Ugur, Yesillik Sait, Sagkan Rahsan I, Pekel Aysel, Demirel Fevzi, Baysan Abdullah, Selçuk Ali, Güleç Mustafa, Şener Osman
Division of Immunology and Allergic Diseases, Gulhane Military Medical Academy and School of Medicine, 06018, Ankara, Turkey.
Wien Klin Wochenschr. 2016 Nov;128(21-22):822-826. doi: 10.1007/s00508-015-0769-8. Epub 2015 Apr 10.
We aimed herein to investigate the killer-cell immunoglobulin-like receptor (KIR) genes and human leukocyte antigen (HLA)-C alleles in patients with common variable immunodeficiency (CVID), and to reveal their differences from those in healthy population.
In all, 18 patients who have been diagnosed with CVID and 15 living donors of kidney transplant recipients were enrolled in the study. Polymerase chain reaction-sequence-specific primer (PCR-SSP) typing method was used in molecular genetic analysis. The frequencies of the genes in the study groups were statistically compared with each other using chi-square or Fisher exact tests, whichever were appropriate.
Although there was no significant difference between both study groups with respect to distribution of KIR and HLA-C2 group genes, HLA-Cw7 allele frequency in patients with CVID was significantly lower than that in healthy population (P = 0.008).
This present study results support that HLA-Cw7 allele, an inhibitor of KIR ligand, may play a role in the pathogenesis of CVID.
我们旨在研究常见可变免疫缺陷（CVID）患者的杀伤细胞免疫球蛋白样受体（KIR）基因和人类白细胞抗原（HLA）-C等位基因，并揭示它们与健康人群的差异。
本研究共纳入18例已确诊为CVID的患者和15例肾移植受者的活体供者。分子遗传学分析采用聚合酶链反应-序列特异性引物（PCR-SSP）分型方法。根据情况，使用卡方检验或Fisher精确检验对研究组中基因的频率进行统计学比较。
虽然两组研究对象在KIR和HLA-C2组基因分布方面无显著差异，但CVID患者中HLA-Cw7等位基因频率显著低于健康人群（P = 0.008）。
本研究结果支持KIR配体抑制剂HLA-Cw7等位基因可能在CVID发病机制中起作用。
