Systemic autoinflammatory diseases in pediatric population.

IF 1.6 Q3 ALLERGY Asia Pacific Allergy Pub Date : 2022-07-18 eCollection Date: 2022-07-01 DOI:10.5415/apallergy.2022.12.e29

Maria Luís Marques, Inês Machado Cunha, Sérgio Alves, Margarida Guedes, Carla Zilhão

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引用次数: 4

Abstract

Background: Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.

Objective: We aimed to characterize the clinical features of patients with SAID.

Methods: This study was a retrospective chart review on the clinical and genetic features of the pediatric population with SAID observed from 1998 to 2020 in our center.

Results: A total of 54 patients were evaluated: 18 with periodic fever, aphthous stomatitis, pharyngitis and adenitis syndrome; 16 with Behçet disease; 13 with systemic juvenile idiopathic arthritis; 4 with syndrome of undifferentiated recurrent fever; 1 with cryopyrin associated periodic syndrome; 1 with chronic nonbacterial osteomyelitis; and 1 with Muckle-Wells syndrome.

Conclusion: The analysis of clinical features of our patients are similar to other studies. Our goal was to aware the medical community to early recognize and treat SAID to improve quality of life of pediatric patients.

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小儿全身性自身炎症性疾病。

背景:系统性自身炎症性疾病(SAID)是单基因和多基因遗传性疾病，其特征是先天免疫系统失调。目的:我们旨在描述SAID患者的临床特征。方法:本研究对1998年至2020年在我中心观察到的儿童SAID人群的临床和遗传特征进行回顾性分析。结果:共评估54例患者:18例出现周期性发热、口疮性口炎、咽炎、腺炎综合征;behaperet病16例;13例系统性幼年特发性关节炎;4例为无分化反复发热综合征;1例低温肾上腺素相关周期综合征;1例慢性非细菌性骨髓炎;1人患有粘液-威尔斯综合症。结论:本组患者的临床特征分析与其他研究相似。我们的目标是让医学界尽早认识和治疗SAID，以提高儿科患者的生活质量。

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来源期刊

Asia Pacific Allergy ALLERGY-

CiteScore

2.50

自引率

5.90%

发文量

期刊介绍： Asia Pacific Allergy (AP Allergy) is the official journal of the Asia Pacific Association of Allergy, Asthma and Clinical Immunology (APAAACI). Although the primary aim of the journal is to promote communication between Asia Pacific scientists who are interested in allergy, asthma, and clinical immunology including immunodeficiency, the journal is intended to be available worldwide. To enable scientists and clinicians from emerging societies appreciate the scope and intent of the journal, early issues will contain more educational review material. For better communication and understanding, it will include rational concepts related to the diagnosis and management of asthma and other immunological conditions. Over time, the journal will increase the number of original research papers to become the foremost citation journal for allergy and clinical immunology information of the Asia Pacific in the future.