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伴有反复感染的高IgE综合征——一种常染色体显性遗传的多系统疾病。

Hyper-IgE syndrome with recurrent infections--an autosomal dominant multisystem disorder.

作者信息

Grimbacher B, Holland S M, Gallin J I, Greenberg F, Hill S C, Malech H L, Miller J A, O'Connell A C, Puck J M

机构信息

Genetics and Molecular Biology Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892-4442, USA.

出版信息

N Engl J Med. 1999 Mar 4;340(9):692-702. doi: 10.1056/NEJM199903043400904.

Abstract

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 (in 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.

摘要

背景

伴有反复感染的高IgE综合征是一种罕见的免疫缺陷病,其特征为反复出现皮肤和肺部脓肿以及血清IgE水平极度升高。相关的面部和骨骼特征已得到确认,但其发生率尚不清楚,高IgE综合征的遗传基础也知之甚少。

方法

我们研究了30例高IgE综合征患者及其70名亲属。我们采集病史、查阅记录、进行体格检查和牙科检查、进行人体测量并开展实验室研究。

结果

所有8岁以上的患者均出现高IgE综合征的非免疫性特征。72%的患者存在由于牙根未吸收导致乳牙脱落失败或延迟这一此前未被认识到的特征。患者的常见表现包括反复骨折(57%的患者)、关节过度伸展(68%)和脊柱侧凸(16岁及以上患者中的76%)。所有患者中有77%、8岁以上患者中有85%出现了脓肿、肺炎和IgE水平升高这一典型三联征。在23名成年人中有6名(26%),IgE水平随时间下降并接近或降至正常范围。发现高IgE综合征呈常染色体显性遗传,但表现度可变。在有遗传高IgE综合征风险的27名亲属中,10名完全受影响,11名未受影响,6名有高IgE综合征的轻度免疫、牙科和骨骼特征组合。

结论

高IgE综合征是一种多系统疾病,会影响牙列、骨骼、结缔组织和免疫系统。它作为一种单基因常染色体显性性状遗传,表现度可变。

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