Jove
Visualize
Contact Us
JoVE
x logofacebook logolinkedin logoyoutube logo
ABOUT JoVE
OverviewLeadershipBlogJoVE Help Center
AUTHORS
Publishing ProcessEditorial BoardScope & PoliciesPeer ReviewFAQSubmit
LIBRARIANS
TestimonialsSubscriptionsAccessResourcesLibrary Advisory BoardFAQ
RESEARCH
JoVE JournalMethods CollectionsJoVE Encyclopedia of ExperimentsArchive
EDUCATION
JoVE CoreJoVE BusinessJoVE Science EducationJoVE Lab ManualFaculty Resource CenterFaculty Site
Terms & Conditions of Use
Privacy Policy
Policies

Related Experiment Videos

Autoinflammatory gene mutations in Behçet's disease.

I Koné-Paut1, E Sanchez, A Le Quellec

  • 1Department of Pediatrics and Pediatric Rheumatology, Hôpital de Bicêtre, 78 rue du Général Leclerc, 94270 Le Kremlin Bicêtre, France. isabelle.kone-paut@bct.aphp.fr

Annals of the Rheumatic Diseases
|January 11, 2007
PubMed
Summary

This study investigated genetic mutations in Behçet

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

Therapeutic Apheresis Registry of the Spanish Society of Nephrology. Analysis of activity over the last five years.

Nefrologia·2026
Same author

Increase in photosynthetic carbon assimilation and gas exchange through foliar application of melatonin in green bean plants.

Photosynthetica·2026
Same author

One Week, One Boost, One Goal: Feasibility, Safety and Local Control in Breast Ductal Carcinoma In Situ With Ultra-hypofractionated Radiotherapy and Simultaneous Integrated Boost.

Clinical oncology (Royal College of Radiologists (Great Britain))·2025
Same author

A cross-sectional pilot study to define anal cancer risk factors in HIV-positive solid organ transplant recipients.

Infectious diseases (London, England)·2025
Same author

Positive Neutrino Masses with DESI DR2 via Matter Conversion to Dark Energy.

Physical review letters·2025
Same author

Desmoid tumor: Clinical analysis and literature review.

Revista de gastroenterologia de Mexico (English)·2025

Area of Science:

  • Genetics
  • Immunology
  • Rheumatology

Background:

  • Behçet's disease (BD) shares clinical features with autoinflammatory disorders.
  • Previous studies suggested increased mutations in familial Mediterranean fever and TNF receptor-associated periodic syndrome genes in BD patients.

Purpose of the Study:

  • To investigate the association between Behçet's disease and mutations in mevalonate kinase (MVK), cold-induced autoinflammatory syndrome 1 (CIAS1), and PSTPIP1 genes.
  • To determine if these genes are significantly more common in BD patients compared to healthy controls.

Main Methods:

  • DNA samples from 97 BD patients and 51 healthy controls were analyzed.
  • Screening for known mutations in MVK, CIAS1, and PSTPIP1 genes using restriction fragment length polymorphism analysis and sequencing.

Related Experiment Videos

  • Analysis included specific mutations responsible for mevalonate kinase deficiency (MKD), cryopyrin-associated periodic syndromes (CAPS), and PAPA syndrome.

    • Main Results:

    • Two BD patients had paired mutations in the MVK gene, presenting features of both BD and MKD.
    • One BD patient had a V198M mutation in the CIAS1 gene without CAPS symptoms.
    • A new PSTPIP1 variant (c.741+33_741+34insGT) was identified as a polymorphism, not a mutation, with similar prevalence in patients and controls.

    Conclusions:

    • No significant increase in MVK, CIAS1, or PSTPIP1 mutations was found in Behçet's disease patients compared to controls.
    • The study did not establish a strong genetic link between these specific autoinflammatory genes and Behçet's disease.