Search research articles

ABOUT JoVE

Overview Leadership Blog JoVE Help Center

AUTHORS

Publishing Process Editorial Board Scope & Policies Peer Review FAQ Submit

LIBRARIANS

Testimonials Subscriptions Access Resources Library Advisory Board FAQ

RESEARCH

JoVE Journal Methods Collections JoVE Encyclopedia of Experiments Archive

EDUCATION

JoVE Core JoVE Business JoVE Science Education JoVE Lab Manual Faculty Resource Center Faculty Site

Terms & Conditions of Use

Search research articles

Related Experiment Videos

The autoinflammatory syndromes.

Michael F McDermott¹, Ivona Aksentijevich

¹aUnit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, Barts and the London, Queen Mary School of Medicine and Dentistry, University of London, London, UK. M.F.McDermott@qmul.ac.uk

Current Opinion in Allergy and Clinical Immunology

|January 31, 2004

Summary

This summary is machine-generated.

Related Concept Videos

You might also read

Related Articles

Articles linked to this work by shared authors, journal, and citation graph.

Sort by

Same author

Pyoderma gangrenosum caused by the molecular uncoupling of OTULIN catalytic activity and LUBAC binding.

Nature immunology·2026

Same author

20 years of progress in the classification of immune-mediated diseases.

Nature reviews. Rheumatology·2026

Same author

NK cell dysfunction and interferon-γ production underlie autoinflammation in mevalonate kinase deficiency.

Immunity·2026

Same author

Somatic Variants in Immune Dysregulation: An Ongoing Challenge.

Arthritis & rheumatology (Hoboken, N.J.)·2026

Same author

CD8<sup>+</sup> T cell loss induces autoinflammation in inborn errors of cell death.

Nature communications·2026

Same author

Mice humanized by syntenic replacement with full-length NLRP3 disease-associated variants model the clinical cryopyrinopathy continuum.

JCI insight·2026

Same journal

Biosimilars in allergology: an outline in pediatric patients.

Current opinion in allergy and clinical immunology·2026

Same journal

The immunogenetic landscape of systemic lupus erythematosus.

Current opinion in allergy and clinical immunology·2026

Same journal

Circadian control of innate immunity: molecular mechanisms and implications for allergic disorders.

Current opinion in allergy and clinical immunology·2026

Same journal

Probiotics in allergic disease: from adjunct supplement to immune-modifying strategy (2026 update).

Current opinion in allergy and clinical immunology·2026

Same journal

Updates on drug-induced anaphylaxis in children.

Current opinion in allergy and clinical immunology·2026

Same journal

Beta-lactam de-labelling as a core antimicrobial stewardship strategy in the era of the antimicrobial resistance pandemic: a narrative review.

Current opinion in allergy and clinical immunology·2026

See all related articles

Autoinflammatory diseases, characterized by unprovoked inflammation, are increasingly linked to genetic defects in innate immunity. Recent research highlights mutations in key proteins, revealing connections between seemingly unrelated inflammatory conditions.

Area of Science:

Immunology
Genetics
Rheumatology

Background:

Autoinflammatory diseases are a group of disorders characterized by recurrent, unprovoked inflammatory episodes.
These conditions occur without the presence of autoantibodies or autoreactive T cells, distinguishing them from autoimmune diseases.

Purpose of the Study:

To review recent advancements in understanding diverse human inflammatory conditions.
To explore the concept of autoinflammatory diseases and their underlying mechanisms.

Main Methods:

Review of current scientific literature on autoinflammatory diseases.
Analysis of genetic mutations associated with hereditary periodic fevers and other inflammatory conditions.

Main Results:

Related Experiment Videos

Hereditary periodic fevers are often caused by mutations in pyrin and tumor necrosis factor receptor superfamily molecules involved in innate immunity.

Mutations in cryopyrin are linked to Muckle-Wells/familial cold urticaria and chronic infantile neurologic cutaneous and articular syndrome.

Nucleotide-binding oligomerization domain (NOD) variants are associated with Crohn's disease and Blau syndrome, implicating innate immune pathways.

Conclusions:

The study of autoinflammatory diseases has advanced from genetic identification to defining functional defects.
Ongoing research aims to establish a direct link between defective innate immune responses to microbial components and these diseases.