Renner Eleonore D, Puck Jennifer M, Holland Steven M, Schmitt Markus, Weiss Michael, Frosch Michael, Bergmann Markus, Davis Joie, Belohradsky Bernd H, Grimbacher Bodo
Department of Infectious Diseases and Clinical Immunology, University Children's Hospital, Dr v. Haunersches Kinderspital, Munich, Germany.
J Pediatr. 2004 Jan;144(1):93-9. doi: 10.1016/S0022-3476(03)00449-9.
The autosomal-dominant form of the hyperimmunoglobulin E syndrome (AD-HIES) has been described as a multisystem disorder including immune, skeletal, and dental abnormalities. Variants of AD-HIES are known but not well defined.
We evaluated 13 human immunodeficiency virus-seronegative patients from six consanguineous families with an autosomal-recessive form of hyperimmunoglobulin E syndrome (AR-HIES) and 68 of their relatives.
Persons affected with AR-HIES presented with the classical immunologic findings of hyperimmunoglobulin E syndrome, including recurrent staphylococcal infections of the skin and respiratory tract, eczema, elevated serum immunoglobulin E, and hypereosinophilia. In addition, severe recurrent fungal and viral infections with molluscum contagiosum, herpes zoster, and herpes simplex were noted. Autoimmunity was seen in two patients. Central nervous system sequelae, including hemiplegia, ischemic infarction, and subarachnoid hemorrhages, were common and contributed to high mortality. Notably, patients with AR-HIES did not have skeletal or dental abnormalities and did not develop pneumatoceles, as seen in AD-HIES. In lymphocyte proliferation assays, patients' cells responded poorly to mitogens and failed to proliferate in response to antigens, despite the presence of normal numbers of lymphocyte subpopulations.
The autosomal-recessive form of hyperimmunoglobulin E syndrome is a primary immunodeficiency with elevated immunoglobulin E, eosinophilia, vasculitis, autoimmunity, central nervous system symptoms, and high mortality. AR-HIES lacks several of the key findings of AD-HIES and therefore represents a different, previously unrecognized disease entity.
常染色体显性遗传性高免疫球蛋白E综合征（AD-HIES）被描述为一种多系统疾病，包括免疫、骨骼和牙齿异常。AD-HIES的变异型已知但尚未明确界定。
我们评估了来自6个近亲家庭的13例人类免疫缺陷病毒血清学阴性的常染色体隐性遗传性高免疫球蛋白E综合征（AR-HIES）患者及其68名亲属。
AR-HIES患者表现出高免疫球蛋白E综合征的典型免疫学特征，包括皮肤和呼吸道的复发性葡萄球菌感染、湿疹、血清免疫球蛋白E升高和嗜酸性粒细胞增多。此外，还注意到严重的复发性真菌和病毒感染，如传染性软疣、带状疱疹和单纯疱疹。两名患者出现自身免疫。中枢神经系统后遗症，包括偏瘫、缺血性梗死和蛛网膜下腔出血很常见，且导致高死亡率。值得注意的是，AR-HIES患者没有骨骼或牙齿异常，也没有像AD-HIES患者那样出现肺气囊。在淋巴细胞增殖试验中，尽管淋巴细胞亚群数量正常，但患者的细胞对丝裂原反应不佳，对抗原刺激也未能增殖。
常染色体隐性遗传性高免疫球蛋白E综合征是一种原发性免疫缺陷病，具有免疫球蛋白E升高、嗜酸性粒细胞增多、血管炎、自身免疫、中枢神经系统症状和高死亡率。AR-HIES缺乏AD-HIES的几个关键特征，因此代表了一种不同的、以前未被认识的疾病实体。
