Hend M Alkwai, Ibrahim A Almaghlouth, Leonardo Oliveira Mendonça, Shuayb Elkhalifa, Hassan Abolhassani, Suliman Aljumaah, Hamoud Al-Mousa, Mohammed F Alosaimi, Alhanouf AlSaleem, Tadej Avcin, Winnie Ky Chan, Graciela Espada, Marie-Louise Frémond, Ahmet Gül, Djohra Hadef, Nasim Movahedi, Helmut Wittkowski, Sulaiman M Al-Mayouf
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引用次数: 0
Abstract
Objective: To achieve consensus on the definition and clinical approach of Monogenic Inflammatory Immune Dysregulation Disorders (MIIDDs), a collective term for rare conditions marked by inflammation, immune dysregulation, and infection susceptibility. These consensus guidelines specifically apply to pathogenic (or likely pathogenic) gene mutations affecting both innate and adaptive immunity, excluding variants of unknown significance (VUS).
Methods: A multi-step, evidence-based, multidisciplinary consensus process was employed, consisting of: (1) a systematic literature review across four electronic databases (Cochrane Library, Web of Science, Scopus, and MEDLINE via PubMed), updated through December 31, 2024; (2) a pre-Delphi electronic survey completed by 95 international adult and pediatric immunologists and rheumatologists; and (3) a modified online Delphi process with an international multidisciplinary expert panel, where statements were iteratively analyzed and refined until achieving consensus (≥ 80% agreement among panelists).
Results: Fifteen experts from 12 countries participated in two rounds of the Delphi process, resulting in the development of eight overarching principles and 10 consensus statements. These were categorized into five domains: (1) definitions and conceptual framework, (2) diagnostic and monitoring considerations, (3) treatment and therapeutic strategies, (4) multidisciplinary and collaborative care, and (5) patient education and support.
Conclusion: This consensus defines MIIDDs and provides a structured clinical framework to streamline research efforts and improve patient outcomes.
目的：对单基因炎性免疫失调疾病（MIIDDs）的定义和临床方法达成共识，这是一个以炎症、免疫失调和感染易感性为特征的罕见疾病的统称。这些共识指南特别适用于影响先天免疫和适应性免疫的致病性（或可能致病性）基因突变，不包括未知意义的变异（VUS）。方法：采用多步骤、循证、多学科共识过程，包括：(1)对四个电子数据库（Cochrane Library、Web of Science、Scopus和通过PubMed的MEDLINE）进行系统文献综述，更新至2024年12月31日；(2)由95名国际成人和儿童免疫学家及风湿病学家完成的delphi前电子调查；(3)与国际多学科专家小组进行改进的在线德尔菲过程，其中对陈述进行迭代分析和改进，直到达成共识（小组成员之间的一致性≥80%）。结果：来自12个国家的15名专家参与了两轮德尔菲过程，最终形成了8项总体原则和10项共识声明。这些被分为五个领域：(1)定义和概念框架；(2)诊断和监测考虑；(3)治疗和治疗策略；(4)多学科和协作护理；(5)患者教育和支持。结论：这一共识定义了MIIDDs，并提供了结构化的临床框架，以简化研究工作并改善患者预后。
期刊介绍：
Pediatric Rheumatology is an open access, peer-reviewed, online journal encompassing all aspects of clinical and basic research related to pediatric rheumatology and allied subjects.
The journal’s scope of diseases and syndromes include musculoskeletal pain syndromes, rheumatic fever and post-streptococcal syndromes, juvenile idiopathic arthritis, systemic lupus erythematosus, juvenile dermatomyositis, local and systemic scleroderma, Kawasaki disease, Henoch-Schonlein purpura and other vasculitides, sarcoidosis, inherited musculoskeletal syndromes, autoinflammatory syndromes, and others.
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