Hyper-IgE syndrome with recurrent infections - An autosomal dominant multisystem disorder
Hyper-IgE syndrome with recurrent infections - An autosomal dominant multisystem disorder
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DOI：
10.1056/nejm199903043400904
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发表时间：
1999-03-04
影响因子：
158.5
通讯作者：
Puck, JM
中科院分区：
文献类型：
--
作者：
Grimbacher, B;Holland, SM;Puck, JM
背景：反复感染的高IgE综合征是一种罕见的免疫缺陷，其特征是反复出现皮肤和肺脓肿，血清中IgE水平极高。相关的面部和骨骼特征已被识别，但其频率尚不清楚，高IgE综合征的遗传学基础尚不清楚。方法我们研究了30例高IgE综合征患者及其70名亲属。我们记录病史，回顾记录，进行身体和牙科检查，进行人体测量和实验室研究。结果所有8岁以上的患者都存在高IgE综合征的非免疫学特征。72%的人具有以前未被认识到的特征，即由于缺乏牙根吸收而导致乳牙脱牙失败或延迟。患者的常见发现是复发性骨折(57%的患者)、关节高度伸展(68%)和脊柱侧弯(76%的患者年龄在16岁或以上)。在77%的患者和85%的8岁以上的患者中，发现了脓肿、肺炎和IgE水平升高的经典三联症。在23名成年人中，有6名(26%)的IgE水平随着时间的推移而下降，接近或降至正常范围内。常染色体显性遗传的高IgE综合征被发现，但有不同的表达。在27名有高IgE综合征遗传风险的亲属中，10人完全受累，11人未受影响，6人合并轻度免疫学、牙科和骨骼特征。结论高IgE综合征是一种影响牙列、骨骼、结缔组织和免疫系统的多系统疾病。它是作为常染色体显性单基因遗传的，具有可变的表现力。(N Engl J Med 1999；340：692-702)(C)1999年，马萨诸塞州医学会。
Background The hyper-IgE syndrome with recurrent infections is a rare immunodeficiency characterized by recurrent skin and pulmonary abscesses and extremely elevated levels of IgE in serum. Associated facial and skeletal features have been recognized, but their frequency is unknown, and the genetic basis of the hyper-IgE syndrome is poorly understood.Methods We studied 30 patients with the hyper-IgE syndrome and 70 of their relatives. We took histories, reviewed records, performed physical and dental examinations, took anthropometric measurements, and conducted laboratory studies.Results Nonimmunologic features of the hyper-IgE syndrome were present in all patients older than eight years. Seventy-two percent had the previously unrecognized feature of failure or delay of shedding of the primary teeth owing to lack of root resorption. Common findings among patients were recurrent fractures (in 57 percent of patients), hyperextensible joints (in 68 percent), and scoliosis tin 76 percent of patients 16 years of age or older). The classic triad of abscesses, pneumonia, and an elevated IgE level was identified in 77 percent of all patients and in 85 percent of those older than eight. In 6 of 23 adults (26 percent), IgE levels declined over time and came closer to or fell within the normal range. Autosomal dominant transmission of the hyper-IgE syndrome was found, but with variable expressivity. Of the 27 relatives at risk for inheriting the hyper-IgE syndrome, 10 were fully affected, 11 were unaffected, and 6 had combinations of mild immunologic, dental, and skeletal features of the hyper-IgE syndrome.Conclusions The hyper-IgE syndrome is a multisystem disorder that affects the dentition, the skeleton, connective tissue, and the immune system. It is inherited as a single-locus autosomal dominant trait with variable expressivity. (N Engl J Med 1999;340:692-702.) (C) 1999, Massachusetts Medical Society.