Primary Immunodeficiency Care And Research Institute, Chang Gung Memorial Hospital and University College of Medicine, Taoyuan, Taiwan.
J Clin Immunol. 2011 Apr;31(2):272-80. doi: 10.1007/s10875-010-9479-1. Epub 2010 Dec 1.
Hyper-immunoglobulin E recurrent infection syndromes (HIES) has characteristic features and identified mutations. This study investigated clinical features and causal candidate mutations in Taiwanese patients with the HIES phenotype on referral base over 23 million inhabitants.
Clinical manifestations of the HIES phenotype, severity scoring, immunological functions and candidate genes of signal transducer and activator of transcription 3 (STAT3), tyrosine kinase 2 (TYKZ), and dedicator of cytokineses 8 (DOCK8) were analyzed.
Between 1985 and 2009, six sporadic and two siblings met HIES criteria (onset age: 2-54 months; severity score: 31-65) out of 187 patients with primary immunodeficiencies. Five patients with the autosomal dominant (AD)-HIES phenotype presented as pneumatocoele, bronchiectasis, retained primary teeth, minor trauma fracture, scoliosis, coronary aneurysm, and lymphoma. Three with the autosomal recessive (AR)-HIES phenotype and impaired lymphocyte proliferation function had herpes simplex virus infection, molluscum contagiosum, and cerebral vasculitis. Notably in one patient with the AR-HIES phenotype, unintentional lead component in traditional application herbs for accelerating wound healing deposited in basal ganglia and aggravated involuntary movement relative to cerebral vacculitis. Those with mildly elevated memory T cells and decreased memory B cells trended to develop arteritis. Of five AD-HIES patients, three were mortalities from acute myocardial infarction, Proteus mirabilis, and Staphylococcus aureus sepsis. Only one had de novo novel STAT3 (Gln 469 Arg) mutation with "relative" lower HIES STAT3 score.
Known genetic defects responsible for the HIES phenotype are not so common in Taiwan. This may infer genetic variations in different ethnicities although selection bias and under-diagnosis for HIES with known genetic defects could be contribution factors.
高免疫球蛋白 E 复发性感染综合征（HIES）具有特征性表现和明确的突变。本研究调查了基于转诊的 2300 多万居民中 HIES 表型台湾患者的临床特征和候选致病突变。
分析了 HIES 表型的临床表现、严重程度评分、免疫功能以及信号转导和转录激活因子 3（STAT3）、酪氨酸激酶 2（TYKZ）和细胞因子衔接蛋白 8（DOCK8）的候选基因。
1985 年至 2009 年间，在 187 例原发性免疫缺陷患者中，有 6 例散发性和 2 例同胞符合 HIES 标准（发病年龄：2-54 个月；严重程度评分：31-65）。5 例常染色体显性（AD）-HIES 表型患者表现为肺大疱、支气管扩张、乳牙滞留、轻微创伤性骨折、脊柱侧凸、冠状动脉瘤和淋巴瘤。3 例常染色体隐性（AR）-HIES 表型和淋巴细胞增殖功能受损的患者感染单纯疱疹病毒、传染性软疣和脑血管炎。值得注意的是，在一名 AR-HIES 表型患者中，传统应用于加速伤口愈合的草药中的无意铅成分沉积在基底神经节，加重了相对于脑血管炎的不自主运动。那些记忆 T 细胞轻度升高和记忆 B 细胞减少的患者倾向于发生动脉炎。5 例 AD-HIES 患者中有 3 例因急性心肌梗死、奇异变形杆菌和金黄色葡萄球菌败血症而死亡。只有 1 例有新的 STAT3（Gln469Arg）突变，HIESSTAT3 评分相对较低。
导致 HIES 表型的已知遗传缺陷并不常见于台湾。这可能暗示不同种族之间存在遗传变异，尽管存在选择偏差和已知遗传缺陷的 HIES 诊断不足可能是促成因素。
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