Evidence map›Paper›PMID 40369629›Full record

SynthesisPediatric rheumatology online journal2025

International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders.

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 and 8 more

Abstract readSystematic ReviewConsensus Statement
In one paragraph

Synthesis in Pediatric rheumatology online journal, 2025. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 1 paper.

0numbers the graph read from it
0cells of the map it votes in
1citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

1 citing paper in PubMed.

  1. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

18 authors.

Hend M AlkwaiDepartment of Pediatrics, College of Medicine, University of Ha'il, Ha'il, Saudi Arabia.
Ibrahim A AlmaghlouthDepartment of Medicine, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Leonardo Oliveira MendonçaDivision of Clinical Immunology and Allergy, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, São Paulo, Brazil.
Shuayb ElkhalifaAllergy and Immunology Division, Cleveland Clinic Abu Dhabi, Abu Dhabi, United Arab Emirates.
Hassan AbolhassaniDivision of Immunology, Department of Medical Biochemistry and Biophysics, Karolinska Institutet, Stockholm, Sweden.
Suliman AljumaahDepartment of Pediatric Infectious Diseases, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Hamoud Al-MousaCollege of Medicine, Alfaisal University, Po Box 3354, Riyadh, 11211, Saudi Arabia.
Mohammed F AlosaimiImmunology Research Lab, Pediatric Department, College of Medicine, King Saud University, Riyadh, Saudi Arabia.
Alhanouf AlSaleemDepartment of Pediatric Rheumatology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Tadej AvcinUniversity Children's Hospital, University Medical Centre Ljubljana, Ljubljana, Slovenia.
Winnie Ky ChanDepartment of Paediatrics, Queen Elizabeth Hospital, Kowloon, Hong Kong, People's Republic of China.
Graciela EspadaHospital de Niños Dr Ricardo Gutiérrez, Buenos Aires, Argentina.
Marie-Louise FrémondPaediatric Haematology-Immunology and Rheumatology Unit, Reference Centre for Inflammatory Rheumatism, Autoimmune Diseases and Systemic Interferonopathies in Children (RAISE), APHP. Centre - Université Paris Cité, Necker Hospital, Paris, F-75015, France.
Ahmet GülIstanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey.
Djohra HadefDepartment of Paediatrics, University Hospital Center of Batna, Batna, Algeria.
Nasim MovahediGolestan Rheumatology Research Center (GRRC), Golestan University of Medical Sciences, Gorgan, Iran.
Helmut WittkowskiDepartment of Pediatric Rheumatology and Immunology, University Hospital Münster, Münster, Germany.
Sulaiman M Al-MayoufCollege of Medicine, Alfaisal University, Po Box 3354, Riyadh, 11211, Saudi Arabia. mayouf@kfshrc.edu.sa.

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

objectiveTo 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).

methodsA 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).

resultsFifteen 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.

conclusionThis consensus defines MIIDDs and provides a structured clinical framework to streamline research efforts and improve patient outcomes.

Indexed as

Immune System DiseasesDelphi TechniqueHumansAutoimmuneAutoinflammatoryConsensusGeneticImmune dysregulationInborn errors of immunityInflammatory

Identifiers

PMID40369629
PMCPMC12079908

What Socratic holds

Textmetadata
LicenceCC BY-NC-ND
Read underepoch 390

Registered trials

None linked

Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.