International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders
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...
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BMC
2025-05-01
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| Series: | Pediatric Rheumatology Online Journal |
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| Online Access: | https://doi.org/10.1186/s12969-025-01109-z |
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| author | 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 |
| author_facet | 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 |
| author_sort | Hend M. Alkwai |
| collection | DOAJ |
| description | 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. |
| format | Article |
| id | doaj-art-f6d1fcff30c145a891d65e2370c260f2 |
| institution | DOAJ |
| issn | 1546-0096 |
| language | English |
| publishDate | 2025-05-01 |
| publisher | BMC |
| record_format | Article |
| series | Pediatric Rheumatology Online Journal |
| spelling | doaj-art-f6d1fcff30c145a891d65e2370c260f22025-08-20T03:10:16ZengBMCPediatric Rheumatology Online Journal1546-00962025-05-012311710.1186/s12969-025-01109-zInternational multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disordersHend M. Alkwai0Ibrahim A. Almaghlouth1Leonardo Oliveira Mendonça2Shuayb Elkhalifa3Hassan Abolhassani4Suliman Aljumaah5Hamoud Al-Mousa6Mohammed F. Alosaimi7Alhanouf AlSaleem8Tadej Avcin9Winnie KY Chan10Graciela Espada11Marie-Louise Frémond12Ahmet Gül13Djohra Hadef14Nasim Movahedi15Helmut Wittkowski16Sulaiman M. Al-Mayouf17Department of Pediatrics, College of Medicine, University of Ha’ilDepartment of Medicine, College of Medicine, King Saud UniversityDivision of Clinical Immunology and Allergy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São PauloAllergy and Immunology Division, Cleveland Clinic Abu DhabiDivision of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska InstitutetDepartment of Pediatric Infectious Diseases, King Faisal Specialist Hospital & Research CentreCollege of Medicine, Alfaisal UniversityImmunology Research Lab, Pediatric Department, College of Medicine, King Saud UniversityDepartment of Pediatric Rheumatology, King Faisal Specialist Hospital and Research CenterUniversity Children’s Hospital, University Medical Centre LjubljanaDepartment of Paediatrics, Queen Elizabeth HospitalHospital de Niños Dr Ricardo GutiérrezPaediatric Haematology-Immunology and Rheumatology Unit, Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), APHP. Centre - Université Paris Cité, Necker HospitalIstanbul Faculty of Medicine, Istanbul UniversityDepartment of Paediatrics, University Hospital Center of BatnaGolestan Rheumatology Research Center (GRRC), Golestan University of Medical SciencesDepartment of Pediatric Rheumatology and Immunology, University Hospital MünsterCollege of Medicine, Alfaisal UniversityAbstract 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.https://doi.org/10.1186/s12969-025-01109-zInborn errors of immunityGeneticInflammatoryAutoimmuneAutoinflammatoryImmune dysregulation |
| spellingShingle | 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 International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders Pediatric Rheumatology Online Journal Inborn errors of immunity Genetic Inflammatory Autoimmune Autoinflammatory Immune dysregulation |
| title | International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders |
| title_full | International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders |
| title_fullStr | International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders |
| title_full_unstemmed | International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders |
| title_short | International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders |
| title_sort | international multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders |
| topic | Inborn errors of immunity Genetic Inflammatory Autoimmune Autoinflammatory Immune dysregulation |
| url | https://doi.org/10.1186/s12969-025-01109-z |
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