van der meer J W M, Weemaes C M R, van Krieken J H, Blomjous C E M, van Die C E, Netea M G, Bredie S J H
Department of General Internal Medicine, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands.
J Intern Med. 2006 Jun;259(6):615-8. doi: 10.1111/j.1365-2796.2006.01653.x.
The autosomal-dominant (AD) form of the hyperimmunoglobulin E syndrome (HIES) has been described as a multisystem disorder including immune, skeletal and dental abnormalities. Recently, the evaluation of patients from families in which HIES was inherited in a manner more consistent with autosomal-recessive (AR) inheritance, showed that AR-HIES is a clinically distinct disease entity. In addition to classical immunologic findings of AD-HIES, the AR form presents with severe recurrent fungal and viral infections with herpes zoster, herpes simplex and characteristic mollusca contagiosa. Furthermore, cerebral vascular sequelae, including vasculitis, infarction and haemorrhage were noted. In this report, we describe the clinical picture of two patients who showed remarkable resemblance to the description of AR-HIES, but also developed fatal aneurysmal dilatation of the thoracic aorta in adolescence. This finding may further consummate the clinical picture of AR-HIES and emphasize the possibility to develop early aortitis, most likely preceding the critical aneurysm formation at older age. This process should be anticipated during childhood in cases with AR-HIES.
常染色体显性（AD）形式的高免疫球蛋白E综合征（HIES）被描述为一种多系统疾病，包括免疫、骨骼和牙齿异常。最近，对那些HIES以更符合常染色体隐性（AR）遗传方式遗传的家庭中的患者进行评估发现，AR-HIES是一种临床上独特的疾病实体。除了AD-HIES的经典免疫学表现外，AR形式还表现为严重的复发性真菌和病毒感染，伴有带状疱疹、单纯疱疹和特征性传染性软疣。此外，还注意到脑血管后遗症，包括血管炎、梗死和出血。在本报告中，我们描述了两名患者的临床表现，他们与AR-HIES的描述非常相似，但在青春期还出现了致命的胸主动脉瘤样扩张。这一发现可能会进一步完善AR-HIES的临床表现，并强调在老年关键动脉瘤形成之前很可能早期发生主动脉炎的可能性。在患有AR-HIES的儿童病例中，应在儿童期就对此过程有所预期。
