聚丝蛋白基因突变1例特应性行军。

IF 1.1 4区 医学 Q4 ALLERGY
Anahita Razaghian, Leila Moradi, Bahar Allahverdi, Maryam Khansari Asadabadi, Zahra Alizadeh, Raheleh Shokouhi Shoormasti, Mohammadreza Fazlollahi
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引用次数: 0

摘要

简介:特应性进行是指过敏性疾病的进展,从儿童早期的特应性皮炎(AD)到食物过敏、嗜酸性食管炎(EOE),再到后来的呼吸道过敏,如哮喘和过敏性鼻炎。聚丝蛋白基因的突变,损害皮肤屏障功能,与这种进展密切相关,并有助于过敏致敏。病例介绍:我们介绍一名患有严重AD、食物过敏、EOE、变应性鼻炎和哮喘的7岁男孩,并伴有聚丝蛋白突变(c.5152C>T)。他的临床过程显示了特应性进展,从最初的皮肤受累发展到胃肠道和呼吸道过敏表现。结论:了解驱动这种进展的遗传因素可能有助于确定早期干预的目标,以防止变应性疾病的进一步发展。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Atopic March in a Case of Filaggrin Gene Mutation.

Introduction: The atopic march refers to the progression of allergic disorders from atopic dermatitis (AD) in early childhood to food allergies, eosinophilic esophagitis (EOE), and later respiratory allergies such as asthma and allergic rhinitis. Mutations in the filaggrin gene, which compromise skin barrier function, are strongly associated with this progression and contribute to allergic sensitization. Case Presentation: We introduce a 7-year-old boy with severe AD, food anaphylaxis, EOE, allergic rhinitis, and asthma associated with a filaggrin mutation (c.5152C>T). His clinical course illustrates the atopic march, with initial skin involvement progressing to gastrointestinal and respiratory allergic manifestations. Conclusion: Understanding the genetic factors that drive this progression may help identify targets for early intervention to prevent the further development of allergic disease.

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来源期刊
CiteScore
2.00
自引率
0.00%
发文量
23
审稿时长
>12 weeks
期刊介绍: Pediatric Allergy, Immunology, and Pulmonology is a peer-reviewed journal designed to promote understanding and advance the treatment of respiratory, allergic, and immunologic diseases in children. The Journal delivers original translational, clinical, and epidemiologic research on the most common chronic illnesses of children—asthma and allergies—as well as many less common and rare diseases. It emphasizes the developmental implications of the morphological, physiological, pharmacological, and sociological components of these problems, as well as the impact of disease processes on families. Pediatric Allergy, Immunology, and Pulmonology coverage includes: -Functional and genetic immune deficiencies- Interstitial lung diseases- Both common and rare respiratory, allergic, and immunologic diseases- Patient care- Patient education research- Public health policy- International health studies
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