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首页> 外文期刊>Pediatric allergy, immunology, and pulmonology >A Case of D0CK8 Deficient Hyper-lgE Syndrome Presenting Primarily With Eczema, Food Allergy, and Asthma
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A Case of D0CK8 Deficient Hyper-lgE Syndrome Presenting Primarily With Eczema, Food Allergy, and Asthma

机译：主要表现为湿疹，食物过敏和哮喘的D0CK8缺乏性高IgE综合征

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摘要

Dedicator of cytokinesis 8 {DOCKS) deficiency is a rare and recently described irnmunodeficiency, which is characterized with cutaneous viral and sinopulmonary infections, eczema, and high IgE levels. A D0CK8 deficient patient who had been followed up for severe atopic dermatitis, multiple food allergies, and asthma for several years is reported and clues are given for the diagnosis of DOCK8 deficiency. A 7-year-old girl was referred due to refractory eosinophilia and eczema. She had angioedema of the lips and increase in eczematous lesions during infancy after milk and egg ingestion and during childhood after fish, hazelnut, and wheat-containing food ingestion. She had episodic wheezing attacks since she was 1-year-old, and she had recurrent pneumonia and acute otitis media in the following years. She was hospitalized for pyoderma after a zona zoster infection. Laboratory findings suggested DOCK8 deficiency and mutational analysis verified. She had stem cell transplantation from a matched unrelated donor but unfortunately she died due to pneumonia 3 months after transplantation. Even though infants have food allergy and recurrent wheezing attacks, the presence of refractory eczema should be carefully followed up by pediatricians for the presence of recurrent cutaneous infections to exclude the diagnosis of DOCK8 deficiency in which stem cell transplantation is the only option and must be done as soon as possible.
机译：胞质分裂抑制剂8（DOCKS）缺乏症的指征是一种罕见且最近描述的免疫缺陷病，其特征是皮肤病毒和肺肺感染，湿疹和高IgE水平。报道了一位D0CK8缺陷患者，该患者已接受了严重的特应性皮炎，多种食物过敏和哮喘的随访数年，并提供了诊断DOCK8缺陷的线索。由于难治性嗜酸粒细胞增多症和湿疹而转诊了一名7岁女孩。她的嘴唇有血管性水肿，在牛奶和鸡蛋摄入后的婴儿期，以及在鱼，榛子和含小麦的食物摄入后的童年时期，湿疹性病变增多。自1岁起，她就发作过喘息发作，随后几年又复发了肺炎和急性中耳炎。带状疱疹感染后，她因脓皮病住院。实验室检查结果提示DOCK8缺乏症并进行了突变分析。她从匹配的无关亲戚那里进行了干细胞移植，但不幸的是，她在移植后3个月死于肺炎。即使婴儿有食物过敏和反复发作的喘息发作，儿科医师也应仔细随访顽固性湿疹的存在，以寻找是否存在反复皮肤感染，以排除DOCK8缺乏症的诊断，因为干细胞移植是唯一的选择，必须这样做尽早。

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