The clinical and laboratory survey of Iranian patients with Hyper-IgE syndrome
The clinical and laboratory survey of Iranian patients with Hyper-IgE syndrome
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DOI：
10.1080/00365540600740470
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发表时间：
2006-10-01
影响因子：
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通讯作者：
Aghamohammadi, Asghar
中科院分区：
文献类型：
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作者：
Moin, Mostafa;Farhoudi, Abolhassan;Aghamohammadi, Asghar
为了确定伊朗推定的高免疫球蛋白E综合征(HIEs)患者的临床和实验室结果，观察了在伊朗初级免疫缺陷登记处登记的来自21个无关家庭的22名患者的病历。患者首发时的中位年龄为1个月，确诊时的中位年龄为52.5个月，中位诊断延迟70个月。有13个家庭有近亲婚姻。所有患者的免疫球蛋白水平均高于2000IU/ml，范围为2000~80000 IU/ml。最常见的表现是：湿疹和皮炎、肺炎、上呼吸道感染、皮肤脓肿、腹泻、深部脓肿和中耳炎。其他较少见的表现为：黏膜皮肤念珠菌病、鼻窦炎、皮肤溃疡、传染性软体病、疱疹病毒性角膜炎、甲真菌病、结膜炎、感染性关节炎和脑膜炎。5例因反复肺炎并发支气管扩张，5例因严重感染和恶性肿瘤死亡。HIEs是一种多系统疾病，尤其影响皮肤、呼吸、骨骼和免疫系统。虽然HIEs是一种罕见的疾病，但反复感染应引起怀疑，值得进一步评估以发现该综合征。
In order to determine the clinical and laboratory findings of Iranian patients with presumed hyper-immunoglobulin E syndrome (HIES), the medical records of 22 patients from 21 unrelated families, who had been registered in the Iranian Primary Immunodeficiency Registry, were observed. The median age of patients at the time of first symptom and at the time of diagnosis was 1 month and 52.5 months, respectively, with a median diagnosis delay of 70 months. 13 families had consanguineous marriages. IgE level was higher than 2000 IU/ml in all patients, ranging from > 2000 to 80,000 IU/ml. The most commonly occurring manifestations were: eczema and dermatitis, pneumonia, upper respiratory tract infections, cutaneous abscesses, diarrhoea, deep abscesses, and otitis media. Other less frequent manifestations were: mucocutaneous candidiasis, sinusitis, cutaneous ulcers, Molluscum contagiosum, herpetic keratitis, onychomycosis, conjunctivitis, septic arthritis, and meningitis. Five patients were complicated by bronchiectasis due to recurrent pneumonia and 5 patients died because of severe infections and malignancy. The HIES is a multisystem disorder that affects especially cutaneous, respiratory, skeletal and the immune system. Although HIES is a rare condition, the recurrent infections should always raise a suspicion, which deserves further evaluation for detecting the syndrome.