Department of Neurology, Medical University of Graz, Graz, Austria.
J Neurol Sci. 2011 Oct 15;309(1-2):12-5. doi: 10.1016/j.jns.2011.07.045. Epub 2011 Aug 19.
The Hyper-IgE syndrome (HIES) is a rare primary immunodeficiency which recently has been associated with heterozygous dominant-negative mutations in the signal transducer and activator of transcription 3 (STAT3). Although HIES is characterized by recurrent staphylococcal infections, the microbial invasion of the central nervous system (CNS) is definitively uncommon. We here report on Staphylococcus aureus meningitis and cerebral abscesses acquired in the community in a 31-year-old female patient with a de novo heterozygous mutation of STAT3 and a Dubowitz-like syndrome characterized by growth retardation, microcephaly and eczema. The patient presented with a relative paucity of clinical symptoms despite severe cerebrospinal fluid pathology and multiple cerebral abscesses. Antimicrobial as well as treatment with intravenous immunoglobulin was well tolerated and led to a slow recovery over a 6 months period. Our observation adds community acquired S. aureus meningitis to the list of life-threatening infections in STAT3-deficient HIES and should also raise awareness for the unusual clinical presentation of severe neuroinfection in this syndrome. Whether the association of HIES with Dubowitz-like syndrome was purely coincidental, possibly supportive of the CNS infection, or suggests a genetic overlap of these syndromes, awaits clarification.
高免疫球蛋白 E 综合征（HIES）是一种罕见的原发性免疫缺陷病，最近与信号转导和转录激活因子 3（STAT3）的杂合显性负突变有关。尽管 HIES的特征是复发性葡萄球菌感染，但中枢神经系统（CNS）的微生物入侵肯定不常见。我们在此报告了一例 31 岁女性患者社区获得性金黄色葡萄球菌脑膜炎和脑脓肿，该患者存在 STAT3 的从头杂合突变和杜博维茨样综合征，其特征为生长迟缓、小头畸形和湿疹。尽管患者的脑脊液病理学和多个脑脓肿严重，但临床表现相对较少。抗生素和静脉注射免疫球蛋白治疗均耐受良好，在 6 个月的时间内缓慢恢复。我们的观察结果将社区获得性金黄色葡萄球菌脑膜炎添加到 STAT3 缺陷型 HIES 的危及生命的感染列表中，并且还应该引起人们对该综合征中严重神经感染的不寻常临床表现的关注。HIES 与杜博维茨样综合征的关联是纯属巧合，可能支持 CNS 感染，还是提示这些综合征存在遗传重叠，尚待澄清。
