Related Experiment Video

Updated: Aug 10, 2026

Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model
07:40

Experimental Autoimmune Uveitis: An Intraocular Inflammatory Mouse Model

Published on: January 12, 2022

Inherited autoinflammatory recurrent fevers

A Pradalier1, A Cauvain, Z Oukachbi

  • 1Service de Médecine Interne, Hôpital Louis Mourier, 178 rue des Renouillers, 92700 Colombes.

European Annals of Allergy and Clinical Immunology
|March 21, 2006
PubMed

Insights

Autoinflammatory diseases involve recurrent fevers and inflammation due to gene mutations affecting apoptosis. Key genes like MEFV, CIAS1, and TRAPS are implicated in these rare genetic disorders.

Area of Science:

  • Genetics
  • Immunology
  • Molecular Biology

Background:

  • Autoinflammatory diseases share clinical features like recurrent fevers, joint, abdominal, and skin manifestations.
  • These syndromes are linked to genetic mutations impacting apoptosis or inflammatory pathways.

Purpose of the Study:

  • To review the genetic basis of autoinflammatory diseases.
  • To highlight key genes and their chromosomal locations involved in these conditions.

Main Methods:

  • Literature review of genetic mutations in autoinflammatory diseases.
  • Analysis of gene functions related to inflammation and apoptosis.

Main Results:

  • Familial Mediterranean Fever (FMF) is associated with the MEFV gene on chromosome 6, encoding pyrin.
  • Muckle Wells syndrome and Familial Cold Urticaria link to CIAS1 gene mutations on chromosome 1, encoding cryopyrin.
  • Tumor Necrosis Factor Receptor-Associated Periodic Syndrome (TRAPS) involves mutations in a gene on chromosome 12, affecting the receptor's extracellular region.

Conclusions:

  • Genetic mutations in specific genes underlie various autoinflammatory syndromes.
  • Understanding these genetic links is crucial for diagnosing and potentially treating these rare diseases.

Related Concept Videos

Autoimmune Disorders01:29

Autoimmune Disorders

Autoimmune diseases are a group of disorders in which the body's immune system mistakenly attacks its own cells, tissues, and organs. This results from an overactive immune response against substances and tissues normally present in the body. Let's delve into the concept and mechanism of autoimmune diseases from an immune system point of view, explore different causes and examples of such diseases, and discuss potential solutions.
Concept and Mechanism of Autoimmune Diseases
The immune system...
Inflammatory Bowel Disease III: Crohn's Disease01:25

Inflammatory Bowel Disease III: Crohn's Disease

Crohn’s disease is a chronic, relapsing form of inflammatory bowel disease characterized by segmental, transmural inflammation that can affect any part of the gastrointestinal tract. Its pathogenesis arises from a combination of genetic susceptibility, environmental exposures, epithelial barrier dysfunction, and immune dysregulation. Together, these factors lead to an exaggerated immune response against components of the gut microbiome.Genetic and Environmental InfluencesMultiple genetic...
Encephalitis l: Introduction01:19

Encephalitis l: Introduction

Encephalitis is inflammation of the brain parenchyma, most often due to infections or autoimmune processes. It presents with neuropsychiatric features such as fever, altered mental status, behavioral changes, cognitive dysfunction, seizures, focal deficits, and sometimes autonomic instability. In some cases, the meninges are also involved, resulting in meningoencephalitis.Infectious CausesInfectious encephalitis is most commonly viral but can also result from bacterial, fungal, or parasitic...
Inflammatory Bowel Disease II: Crohn's Disease01:30

Inflammatory Bowel Disease II: Crohn's Disease

Introduction
Inflammatory bowel disease, commonly known as IBD, refers to a collection of disorders that lead to persistent inflammation of the gastrointestinal tract. The two types of IBD are ulcerative colitis, which impacts the colon, and Crohn's disease, which can involve any part of the gastrointestinal segment.
Crohn's disease
Crohn's disease is a chronic, systemic inflammatory bowel disease (IBD) that predominantly affects the gastrointestinal tract. It is marked by transmural...
Increased Body Temperature01:25

Increased Body Temperature

A body temperature above  38°C  (100.4 °F) is known as fever or pyrexia, and a person with fever is termed 'febrile.' Typically, the hypothalamus, a part of the brain that acts as the body's thermostat, regulates body temperature through a thermoregulatory setpoint. It receives signals from cold and warm thermal receptors throughout the body and adjusts the body's temperature accordingly. Fever occurs when this hypothalamic setpoint is altered, usually in response to an infection or illness.
Rheumatic Heart Disease I: Introduction01:23

Rheumatic Heart Disease I: Introduction

Rheumatic heart disease or RHD is a chronic condition that results from rheumatic fever, causing permanent damage to the heart valves.Etiology and Risk FactorsIt primarily arises from rheumatic fever, an inflammatory disease that can develop after untreated or inadequately treated group A streptococcal (GAS) pharyngitis. Streptococcus spreads through direct contact with oral or respiratory secretions. While the bacteria are the causative agents, factors like malnutrition, overcrowding, poor...