尿苷单磷酸激酶与B型流感嗜血杆菌侵袭性疾病易感性

Uridine monophosphate kinase and susceptibility to invasive Haemophilus influenzae type B disease.

作者信息

Petersen G M, Silimperi D R, Scott E M, Hall D R, Rotter J I, Ward J I

出版信息

Adv Exp Med Biol. 1986;195 Pt A:137-42. doi: 10.1007/978-1-4684-5104-7_21.

Abstract

A polymorphic genetic variant of the pyrimidine pathway enzyme, uridine monophosphate kinase-3 (UMPK-3), was positively associated with invasive Hib disease. All UMPK 3-3 homozygotes in this study were Hib cases, and we found that in cases and controls, there was no difference between UMPK phenotype and serum levels of total Hib antibody as measured by radioimmunoassay. This suggests that UMPK-3 may play a role in mediating the non-humoral immunity to Hib. However, unlike other enzyme variants in the nucleoside synthesis pathways which result in syndromes of severe immunodeficiency, this gene appears to confer a more subtle disease susceptibility. Thus, the UMPK-3 allele, although rare in Caucasians, is associated with an increased risk of invasive Hib infection in Alaskan Eskimos.

摘要

嘧啶途径酶尿苷单磷酸激酶-3（UMPK-3）的一种多态性基因变体与侵袭性b型流感嗜血杆菌（Hib）疾病呈正相关。本研究中所有UMPK 3-3纯合子均为Hib病例，并且我们发现，在病例组和对照组中，通过放射免疫测定法测得的UMPK表型与总Hib抗体血清水平之间没有差异。这表明UMPK-3可能在介导对Hib的非体液免疫中发挥作用。然而，与核苷合成途径中导致严重免疫缺陷综合征的其他酶变体不同，该基因似乎赋予了一种更为微妙的疾病易感性。因此，UMPK-3等位基因尽管在白种人中罕见，但在阿拉斯加爱斯基摩人中与侵袭性Hib感染风险增加相关。