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The registry of
Auto-Inflammatory Disease mutations

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Topic: Clinical diagnosis
Peruvian puzzling case
Request by: Juan Carlos Aldave

Contributed by: Aldave JUAN (2013-10-03)
Answer by: Pr Isabelle KONE-PAUT, Bicetre, France

Topic: Treatment
Parent of homozygote FMF 6 years old
Request by: Patient

Contributed by: Adel BELKACEM (2013-07-17)
Answer by: Dr Merva Lidar, Israel

Topic: Clinical diagnosis
Recurrent pyrexial episodes with effusions
Request by: George Tanteles

Contributed by: George TANTELES (2013-07-10)
Answer by: Dr Helen J Lachmann, London, UK

Topic: Molecular diagnosis
Clinical relevance of c.278-45T>C variation in NLRP3
Request by: Esther van de Vosse

Contributed by: Esther VAN DE VOSSE (2013-07-08)
Answer by: Isabelle TOUITOU, Montpellier, FR

Topic: Complex cases
Recurrent intermittent colitis
Request by: Joost Frenkel

Contributed by: Joost FRENKEL (2013-07-05)
Answer by: Dr Paul BROGAN, London, UK

Topic: Molecular diagnosis
Significance of NOD2 mutations
Request by: Marios Kambouris, Director, Department of Molecular Genetics, Shafallah Medical Genetics, Center, Doha, Qatar

Contributed by: Marios KAMBOURIS (2013-07-03)
Answer by: Dr Suzanne Lesage, Paris, FR and Pr Jean-Pierre Hugot, Paris, FR

Topic: Complex cases
Clinical case- an autoinflammatory disease?
Request by: Cristina Cruz da Ângela

Contributed by: Maria Cristina CRUZ DA ÂNGELA (2013-06-28)
Answer by: Dr Joost Frenkel, NL

Topic: Complex cases
recurrent fevers in multiple sclerosis
Request by: Ilya Kister

Contributed by: Ilya KISTER (2013-06-06)
Answer by: Dr Joost Frenkel, NL

Topic: Quality of life
Fatigue in FMF
Request by: Patient

Contributed by: Isabelle TOUITOU (2013-03-25)
Answer by: Pr Myrna Medlej-Hashim, Lebanon

Topic: Treatment
Ankinra in FMF
Request by: Dr. Jordi Antón, ES Universitat de Barcelona

Contributed by: Isabelle TOUITOU (2013-01-15)
Answer by: Pr Seza Ozen, TK

Topic: Molecular diagnosis
Significance of the I591T MEFV variant
Request by: Anonymous

Contributed by: Isabelle TOUITOU (2012-12-14)
Answer by: Pr Isabelle Touitou, FR

Topic: Molecular diagnosis
Significance of the R202Q MEFV variant
Request by: Anonymous

Contributed by: Isabelle TOUITOU (2012-10-24)
Answer by: Pr Isabelle Touitou, FR

Topic: Complex cases
Is the following case an autoinflammatory disease?
Request by: Dr Juan Aldave, clinical immunologist from Lima-Peru

Contributed by: Isabelle TOUITOU (2012-05-31)
Answer by: Pr Isabelle Koné-Paut, FR

Topic: Molecular diagnosis
Significance of the R761H MEFV variant
Request by: Kristina A. Roberts, PhD, Salt Lake City, USA

Contributed by: Isabelle TOUITOU (2012-02-07)
Answer by: Pr Isabelle Touitou, FR

Topic: Patient care
Help on FCAS
Request by: Patient

Contributed by: Isabelle TOUITOU (2011-10-25)
Answer by: Pr Hal Hoffman, USA

Topic: Molecular diagnosis
Significance of the E148Q MEFV variant
Request by: Anonymous

Contributed by: Isabelle TOUITOU (2011-06-28)
Answer by: Pr Tamara Sarkisian, AM

Topic: Clinical diagnosis
Muckle-Wells and Mediteranean Fever syndromes, the cause of my lifelong problems?
Request by: Patient

Contributed by: Isabelle TOUITOU (2011-06-23)
Answer by: Pr Helen Lachmann, UK

Topic: Clinical diagnosis
FMF and lichen amiloidosis
Request by: Patient

Contributed by: Isabelle TOUITOU (2010-11-11)
Answer by: Pr Helen Lachmann, UK

Topic: Patient care
Acute Rheumatic Fever and Proton Pump Inhibitors
Request by: Anonymous

Contributed by: Isabelle TOUITOU (2010-03-15)
Answer by: Pr E Ben-Chétrit, IL

Topic: Patient care
FMF homozyote vs heterozygote
Request by: Yuval BRANDSTETTER

Contributed by: Isabelle TOUITOU (2009-06-16)
Answer by: Pr Eldad Ben-Chetrit, Israel

Topic: Molecular diagnosis
Significance of the c.769-38 C>T MEFV variant
Request by: Anonymous

Contributed by: Isabelle TOUITOU (2009-04-17)
Answer by: Pr Isabelle Touitou, FR