{"title":"小儿全身性自身炎症性疾病。","authors":"Maria Luís Marques, Inês Machado Cunha, Sérgio Alves, Margarida Guedes, Carla Zilhão","doi":"10.5415/apallergy.2022.12.e29","DOIUrl":null,"url":null,"abstract":"<p><strong>Background: </strong>Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.</p><p><strong>Objective: </strong>We aimed to characterize the clinical features of patients with SAID.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":8488,"journal":{"name":"Asia Pacific Allergy","volume":"12 3","pages":"e29"},"PeriodicalIF":1.6000,"publicationDate":"2022-07-18","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/93/2b/apa-12-e29.PMC9353204.pdf","citationCount":"4","resultStr":"{\"title\":\"Systemic autoinflammatory diseases in pediatric population.\",\"authors\":\"Maria Luís Marques, Inês Machado Cunha, Sérgio Alves, Margarida Guedes, Carla Zilhão\",\"doi\":\"10.5415/apallergy.2022.12.e29\",\"DOIUrl\":null,\"url\":null,\"abstract\":\"<p><strong>Background: </strong>Systemic autoinflammatory diseases (SAID) are monogenic and polygenic inherited conditions characterized by dysregulation of the innate immune system.</p><p><strong>Objective: </strong>We aimed to characterize the clinical features of patients with SAID.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>\",\"PeriodicalId\":8488,\"journal\":{\"name\":\"Asia Pacific Allergy\",\"volume\":\"12 3\",\"pages\":\"e29\"},\"PeriodicalIF\":1.6000,\"publicationDate\":\"2022-07-18\",\"publicationTypes\":\"Journal Article\",\"fieldsOfStudy\":null,\"isOpenAccess\":false,\"openAccessPdf\":\"https://ftp.ncbi.nlm.nih.gov/pub/pmc/oa_pdf/93/2b/apa-12-e29.PMC9353204.pdf\",\"citationCount\":\"4\",\"resultStr\":null,\"platform\":\"Semanticscholar\",\"paperid\":null,\"PeriodicalName\":\"Asia Pacific Allergy\",\"FirstCategoryId\":\"1085\",\"ListUrlMain\":\"https://doi.org/10.5415/apallergy.2022.12.e29\",\"RegionNum\":0,\"RegionCategory\":null,\"ArticlePicture\":[],\"TitleCN\":null,\"AbstractTextCN\":null,\"PMCID\":null,\"EPubDate\":\"2022/7/1 0:00:00\",\"PubModel\":\"eCollection\",\"JCR\":\"Q3\",\"JCRName\":\"ALLERGY\",\"Score\":null,\"Total\":0}","platform":"Semanticscholar","paperid":null,"PeriodicalName":"Asia Pacific Allergy","FirstCategoryId":"1085","ListUrlMain":"https://doi.org/10.5415/apallergy.2022.12.e29","RegionNum":0,"RegionCategory":null,"ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2022/7/1 0:00:00","PubModel":"eCollection","JCR":"Q3","JCRName":"ALLERGY","Score":null,"Total":0}
Systemic autoinflammatory diseases in pediatric population.
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.
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.
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