Alkwai Hend M, Almaghlouth Ibrahim A, Mendonça Leonardo Oliveira, Elkhalifa Shuayb, Abolhassani Hassan, Aljumaah Suliman, Al-Mousa Hamoud, Alosaimi Mohammed F, AlSaleem Alhanouf, Avcin Tadej, Chan Winnie Ky, Espada Graciela, Frémond Marie-Louise, Gül Ahmet, Hadef Djohra, Movahedi Nasim, Wittkowski Helmut, Al-Mayouf Sulaiman M
Department of Pediatrics, College of Medicine, University of Ha'il, Ha'il, Saudi Arabia.
Department of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Pediatr Rheumatol Online J. 2025 May 14;23(1):51. doi: 10.1186/s12969-025-01109-z.
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).
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).
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.
This consensus defines MIIDDs and provides a structured clinical framework to streamline research efforts and improve patient outcomes.
就单基因炎症性免疫调节障碍（MIIDDs）的定义和临床处理方法达成共识，MIIDDs是一类罕见疾病的统称，其特征为炎症、免疫调节异常和易感染。这些共识指南特别适用于影响先天性和适应性免疫的致病性（或可能致病性）基因突变，不包括意义未明的变异（VUS）。
采用了一个多步骤、基于证据的多学科共识流程，包括：（1）对四个电子数据库（Cochrane图书馆、科学网、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预德尔菲电子调查；（3）与一个国际多学科专家小组进行的改良在线德尔菲流程，对陈述进行反复分析和完善，直至达成共识（小组成员中≥80%达成一致）。
来自12个国家的15名专家参与了两轮德尔菲流程，形成了八项总体原则和十项共识声明。这些被分为五个领域：（1）定义和概念框架，（2）诊断和监测考量，（3）治疗和治疗策略，（4）多学科和协作护理，以及（5）患者教育和支持。
这一共识定义了MIIDDs，并提供了一个结构化的临床框架，以简化研究工作并改善患者预后。
