Primary Immunodeficiency Care And Research (PICAR) Institute, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan.
Immunobiology. 2011 Aug;216(8):909-17. doi: 10.1016/j.imbio.2011.01.008. Epub 2011 Jan 18.
Hyper-immunoglobulin E recurrent infection syndromes (HIES) have distinct features, with identified associated mutations of STAT3, TYK2, and DOCK8. Among 197 Taiwanese patients with primary immunodeficiency on a referral-base of over 23 million inhabitants, STAT3 (R382W and Q469R) and DOCK8 mutations (exon 1-9 deletion) were identified in two patients each from six AD-HIES and five AR-HIES patients, respectively. Aside from decreased Th17 and memory B cells, characteristic facies and pneumatocele were not mutually exclusive regardless of STAT3 and DOCK8 mutations. One with novel DOCK8 deletion had notable cytomegalovirus retinitis, cerebral vasculitis, lead deposition, and amenorrhea. In adolescence, three AD-HIES patients without STAT3 mutation died of myocardial infarction, staphylococcus sepsis, and proteus sepsis while receiving chemotherapy for lymphoma. Close follow-up of the HIES phenotype rather than identifying genetic mutations should be the cornerstone of intervention at this juncture because of relatively lower percentage of identifying mutations in Taiwanese HIES (4/11; 36.5%).
高免疫球蛋白 E 反复感染综合征 (HIES) 具有独特的特征，其相关突变已被确定为 STAT3、TYK2 和 DOCK8。在一项针对超过 2300 万居民的转诊基础上，对 197 名台湾原发性免疫缺陷患者进行研究，在 6 名 AD-HIES 和 5 名 AR-HIES 患者中，分别有 2 名患者的 STAT3（R382W 和 Q469R）和 DOCK8 突变（外显子 1-9 缺失）。除了 Th17 和记忆 B 细胞减少外，无论是否存在 STAT3 和 DOCK8 突变，特征性面容和肺大疱并非相互排斥。一名患者具有新的 DOCK8 缺失，伴有明显的巨细胞病毒视网膜炎、脑血管炎、铅沉积和闭经。在青春期，3 名 AD-HIES 患者在接受淋巴瘤化疗时，因心肌梗死、葡萄球菌败血症和变形杆菌败血症而死亡，且均无 STAT3 突变。由于台湾 HIES 中识别突变的比例相对较低（4/11；36.5%），因此此时应将 HIES 表型的密切随访而非识别基因突变作为干预的基石。
