Immunopathogenesis Section, Laboratory of Clinical Infectious Diseases, National Institute of Allergy and Infectious Diseases (NIAID), 10 Center Drive, Bethesda, MD 20892-1899, USA.
J Clin Immunol. 2011 Jun;31(3):338-45. doi: 10.1007/s10875-011-9515-9. Epub 2011 Apr 15.
Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency caused by autosomal dominant STAT3 mutations resulting in recurrent infections and connective tissue abnormalities. Coronary artery abnormalities have been reported infrequently. We aimed to determine the frequency and characteristics of coronary artery abnormalities.
STAT3-mutated HIES patients (n=38), ranging in age from 8 to 57 years, underwent coronary artery imaging by computed tomography or magnetic resonance imaging. Images were evaluated for tortuosity, dilation, and aneurysm. Charts were reviewed for cardiac risk factors. To allow blinded image interpretation, an age- and gender-matched non-HIES group was also evaluated (n=33).
Coronary artery tortuosity or dilation occurred in 70% of HIES patients, with aneurysms present in 37%, incidences much higher than in the literature and in our non-HIES group, in which 21% had tortuosity or dilation and 3% had aneurysms. Hypertension was more common in the HIES group than in the general population and was associated with vessel abnormalities. Atherosclerosis was uncommon and mild.
Coronary artery aneurysms and tortuosity are common in HIES, despite a paucity of atherosclerosis, suggesting that STAT3 plays an integral role in human vascular remodeling and atherosclerosis.
高免疫球蛋白 E 综合征（HIES）是一种罕见的常染色体显性 STAT3 突变引起的原发性免疫缺陷病，可导致反复感染和结缔组织异常。冠状动脉异常的报道较少。我们旨在确定冠状动脉异常的频率和特征。
STAT3 突变的 HIES 患者（n=38），年龄 8 至 57 岁，通过计算机断层扫描或磁共振成像进行冠状动脉成像。评估图像的迂曲、扩张和动脉瘤。回顾图表以评估心脏危险因素。为了允许进行盲法图像解释，还评估了年龄和性别匹配的非 HIES 组（n=33）。
70%的 HIES 患者存在冠状动脉迂曲或扩张，37%存在动脉瘤，发生率远高于文献和我们的非 HIES 组，其中 21%存在迂曲或扩张，3%存在动脉瘤。高血压在 HIES 组比一般人群更常见，且与血管异常有关。动脉粥样硬化不常见且较轻。
尽管动脉粥样硬化程度较轻，但 HIES 患者的冠状动脉动脉瘤和迂曲很常见，这表明 STAT3 在人类血管重塑和动脉粥样硬化中发挥着重要作用。
