Autosomal recessive hyper-IgE syndrome due to DOCK8 deficiency: An adjunctive role for omalizumab

IF 1.1 Q4 ALLERGY
Kim Han Nguyen MD, Quynh Anh Nguyen MD, MSc, Mai Hoang Tran MSc, Thu Thuy Can BS, Mai Thi Vu MD, MSc, Nam Sy Vo PhD, Hieu Chu Chi PhD, Sheryl van Nunen MBBS, MM(Sleep Medicine), FRACP, Dinh Van Nguyen MD, PhD
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引用次数: 1

Abstract

Autosomal recessive hyper-IgE syndrome (AR-HIES) is a rare primary immunodeficiency disorder characterized by high serum IgE levels, recurrent viral skin infections, severe allergies, and early-onset malignancies, associated with mutations in the gene encoding the dedicator of cytokinesis 8 protein (DOCK8). We report a rare case of AR-HIES with DOCK8 deficiency in a young Japanese male with a past medical history of chronic atopic dermatitis, severe food allergies, and severe herpes simplex virus infection. Treatment was successfully based on infection management, skincare, and dietary elimination. In addition, anti-IgE therapy with omalizumab was the target treatment for this syndrome.

Abstract Image

DOCK8缺乏引起的常染色体隐性高IgE综合征:奥马珠单抗的辅助作用
常染色体隐性高IgE综合征(AR - HIES)是一种罕见的原发性免疫缺陷疾病,其特征是血清IgE水平高,反复出现的病毒性皮肤感染,严重过敏和早发性恶性肿瘤,与编码细胞分裂8蛋白(DOCK8)的基因突变有关。我们报告一例罕见的AR - HIES伴DOCK8缺乏症,患者为日本年轻男性,既往有慢性特应性皮炎、严重食物过敏和严重单纯疱疹病毒感染病史。治疗成功的基础上感染管理,皮肤护理和饮食消除。此外,使用omalizumab进行抗IgE治疗是该综合征的目标治疗。
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来源期刊
CiteScore
0.60
自引率
10.00%
发文量
69
审稿时长
12 weeks
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