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

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...

Full description

Saved in:

Bibliographic Details
Main Authors:	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
Format:	Article
Language:	English
Published:	BMC 2025-05-01
Series:	Pediatric Rheumatology Online Journal
Subjects:	Inborn errors of immunity Genetic Inflammatory Autoimmune Autoinflammatory Immune dysregulation
Online Access:	https://doi.org/10.1186/s12969-025-01109-z
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Consanguinity and rare monogenic systemic autoinflammatory disorders: implications for prevalence and genetic variability
by: Alhanouf AlSaleem, et al.
Published: (2025-07-01)

Immune Deficiency and Autoinflammation, the " Yin" and " Yang" of the Immune System
by: ZHOU Yu, et al.
Published: (2024-10-01)

Abdominal syndrome in monogenic autoinflammatory disease – is it just a familial Mediterranean fever?
by: S. O. Salugina, et al.
Published: (2020-11-01)

Autoinflammatory diseases: An immunologist’s view
by: A. Yu. Shcherbina
Published: (2015-03-01)

Monogenic autoinflammatory syndromes with features of systemic vasculitis: a new field of rheumatology
by: T. V. Beketova, et al.
Published: (2023-08-01)

Biologic disease-modifying antirheumatic drugs in the treatment of major monogenic autoinflammatory diseases: literature review and clinical observation
by: S. O. Salugina, et al.
Published: (2021-12-01)

Biological disease-modifying antirheumatic drugs in the main monogenic autoinflammatory diseases treatment. Experience of application in rheumatological practice
by: S. O. Salugina, et al.
Published: (2021-08-01)

Monogenic familial autoinflammatory Behçet-like syndrome/ haploinsufficiency A20 syndrome is a new form of autoinflammatory pathology. Literature review and description of cases
by: Е. S. Fedorov, et al.
Published: (2024-04-01)

Diagnostic and therapeutic insights from a cohort of chronic recurrent multifocal osteomyelitis (CRMO) patients
by: Kosar Asna Ashari, et al.
Published: (2025-07-01)

Undifferentiated autoinflammatory disease in adults: a prospective study in 61 patients
by: Junke Miao, et al.
Published: (2025-04-01)

Investigation of Hepatic and Splenic Shear-wave Elastography Findings in Patients with Familial Mediterranean Fever
by: Kadir Çabalak, et al.
Published: (2025-04-01)

Cryopyrin-associated periodic syndrome Muckle — Wells: A Case Report
by: N. V. Shakhova, et al.
Published: (2023-07-01)

Experience of the successful treatment with canakinumab of a patient with NLPC4-associated autoinflammatory syndrome with enterocolitis
by: T. V. Sleptsova, et al.
Published: (2016-06-01)

Clinical Variations of Uveitis in Immuno-Inflammatory Diseases. Review of the Literature. Part 2
by: G. A. Davydova, et al.
Published: (2023-01-01)

AUTOINFLAMMATORY DISEASES IN CHILDREN(The Lecture from 18th of September 2013, Conference «Topical Problems of Diagnostics and Treatment of Juvenile Rheumatoid Arthritis» (18–20 of September, 2013, St. Petersburg))
by: M. Gattorno
Published: (2014-03-01)

EXPERIENCE OF THE SUCCESSFUL CANAKINUMAB TREATMENT OF A PATIENT WITH UNDIFFERENTIATED AUTOINFLAMMATORY SYNDROME
by: Tatyana V. Sleptsova, et al.
Published: (2016-11-01)

Proteasomal diseases are a new branch of autoinflammatory pathology
by: Evgeny Stanislavovich Fedorov
Published: (2013-12-01)

CHRONIC RECURRENT MULTIFOCAL OSTEOMYELITIS IN THE PRACTICE OF A RHEUMATOLOGIST: FAMILIAL CASES
by: R. U. Shayakhmetova, et al.
Published: (2015-10-01)

AUTOINFLAMMATORY DISEASES IN RHEUMATOLOGY: RUSSIAN EXPERIENCE
by: S. O. Salugina, et al.
Published: (2016-07-01)

Prevalence of co-existing autoimmune and autoinflammatory diseases in vitiligo: a survey-based study from Egypt
by: Samar Tharwat, et al.
Published: (2024-11-01)

Mutation in the proline-serine-threonine phosphatase-interacting protein 1 (PSTPIP1) gene in a patient with acute lymphoblastic leukemia
by: Ewelina Gowin, et al.
Published: (2021-07-01)

Expanding the phenotypic and genetic spectrum of ORAS with novel homozygous variant in OTULIN gene: a case series and literature review
by: Alhanouf AlSaleem, et al.
Published: (2025-07-01)

A family case of a rare autoinflammatory disease associated with mutations in the NLRP3 and TNFRSF1A genes in the practice of a rheumatologist
by: Yu. D. Kurochkina, et al.
Published: (2023-07-01)

A familial case of TRAPS in a Russian population
by: E. S. Fedorov, et al.
Published: (2015-03-01)

BEHCET'S DISEASE IN CHILDREN: RUSSIAN EXPERIENCE
by: N. N. Kuzmina, et al.
Published: (2015-09-01)

Autoinflammatory bone diseases: Genetic mutations, clinical manifestations, and modern therapeutic approaches
by: Hatice Melisa Kaçmaz, et al.
Published: (2025-03-01)

Periodic Fever, Aphthous Stomatitis, Pharyngitis and Adenitis Syndrome: An Update
by: Maria Michailou, et al.
Published: (2025-03-01)

Autoinflammatory diseases. Part 1: concept, classification, immunobiology, diagnosis
by: O.V. Shvaratska, et al.
Published: (2024-11-01)

Renal Impairment Associated with Autoinflammatory Diseases
by: JIAN Shan, et al.
Published: (2024-10-01)

The effects of postponing BCG vaccination on the risk of BCG-related complications among patients with severe combined immunodeficiency disease in Saudi Arabia
by: Amal Aldhaheri, et al.
Published: (2025-05-01)

Risk Factors for Flares and New Lesions of Hidradenitis Suppurativa Following COVID-19 Disease: A Retrospective Cohort Study of 310 Patients in Greece
by: Aikaterini I. Liakou, et al.
Published: (2025-02-01)

Is Canakinumab Safe During Pregnancy? New Insights from Three Cases in Slovakia
by: Branislav Slenker, et al.
Published: (2025-04-01)

Autoinflammatory diseases. Part 3: NLRP and NLRC inflammasomopathies. Biologic therapies for inflammasomopathies
by: O.V. Shvaratska, et al.
Published: (2025-04-01)

Schnitzler Syndrome: An Under-Recognised Cause of Pyrexia of Unknown Origin
by: Dennis Tin Ho Chan, et al.
Published: (2025-07-01)

Single Center Experience of Periodic Fever Syndromes
by: Şerife Gül Karadağ, et al.
Published: (2022-05-01)

The role of interleukin 1 in the development of human diseases: focus on Anakinra (IL-1 receptor antagonist)
by: E. L. Nasonov, et al.
Published: (2022-07-01)

Canakinumab in colchicine resistant familial Mediterranean fever and other pediatric rheumatic diseases
by: Mustafa Çakan, et al.
Published: (2020-04-01)

An exploration of the natural and acquired immunological mechanisms to high-risk human papillomavirus infection and unmasking immune escape in cervical cancer: A concise synopsis
by: Mohammed Mohsen Mohammed, et al.
Published: (2025-01-01)

Attempts of immunization of mice against experimental infection by Toxocara cati
by: Ilham Aed Asaad Al-Tikriti
Published: (2023-02-01)

Autoinflammation with arthritis and dyskeratosis an inflammasomopathy: Case report and review of literature
by: Nayan Patel Sureja, et al.
Published: (2022-01-01)