familial mediterranean fever

Summary

Summary: An autosomal recessive inherited disease characterized by episodic FEVER; severe ABDOMINAL PAIN; PLEURISY; ARTHRITIS; and a characteristic ankle RASH. Disease flare-ups tend to last 3 days, and individuals are asymptomatic between attacks. ORCHITIS; benign recurrent MENINGITIS; HEADACHE; and AMYLOID nephropathy may also occur. (From Medicine (Baltimore) 1998 Jul;77(4):268-97)

Top Publications

  1. ncbi Interferon-alpha as a treatment modality for colchicine- resistant familial Mediterranean fever
    Nurit Tweezer-Zaks
    Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    J Rheumatol 35:1362-5. 2008
  2. ncbi Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, England
    Cell 97:133-44. 1999
  3. ncbi Clinical disease among patients heterozygous for familial Mediterranean fever
    Dina Marek-Yagel
    Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel, and Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
    Arthritis Rheum 60:1862-6. 2009
  4. ncbi The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever
    D Rigante
    Centre of Periodic Fevers, Department of Pediatric Sciences, Universita Cattolica del Sacro Cuore, Rome, Italy
    Eur Rev Med Pharmacol Sci 10:173-8. 2006
  5. ncbi Familial Mediterranean fever: new phenotypes
    Alessandra Soriano
    Periodic Fever Research Centre, National Reference Centre for FMF, Catholic University of the Sacred Heart, Rome, Italy
    Autoimmun Rev 12:31-7. 2012
  6. ncbi Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents
    E Seyahi
    Division of Rheumatology, Department of Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey
    Clin Exp Rheumatol 24:S99-103. 2006
  7. ncbi The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    Keith M Hull
    Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Medicine (Baltimore) 81:349-68. 2002
  8. pmc Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis
    T G Day
    University of Manchester, Manchester, UK
    Arthritis Rheum 58:2142-6. 2008
  9. ncbi Assessment of atrial conduction time in patients with familial Mediterranean fever
    Gurkan Acar
    Faculty of Medicine, Department of Cardiology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey
    Pacing Clin Electrophysiol 32:308-13. 2009
  10. ncbi Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome
    Luca Cantarini
    Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Clin Exp Rheumatol 28:405-7. 2010

Research Grants

  1. Reactive (AA)Amyloidosis
    Merrill D Benson; Fiscal Year: 2013
  2. Systemic AA Amyloidosis Inhibitors
    ALAN D SNOW; Fiscal Year: 2010
  3. MECHANISMS OF ACTIVATION OF ICE-LIKE CYSTEINE PROTEASES
    Emad S Alnemri; Fiscal Year: 2012
  4. Cysteine Proteases in Apoptosis
    Emad S Alnemri; Fiscal Year: 2012
  5. Phase II, IL-1 Trap for Treatment of Familial Mediterranean Fever
    Steven J Spalding; Fiscal Year: 2010
  6. METABOLISM OF SERUM AMYLOID A (SAA:HDL)
    Barbara Kluve Beckerman; Fiscal Year: 2007
  7. Systemic AA Amyloidosis Inhibitors
    ALAN SNOW; Fiscal Year: 2004
  8. SYNTHETIC APPLICATIONS OF CARBENE COMPLEXES
    WILLIAM WULFF; Fiscal Year: 2003
  9. Pyrin in Arthritis: Exression and Modulatory Role
    Arturo Diaz; Fiscal Year: 2004
  10. Novel regulatory role of cryopyrin in inflammation
    Harold Hoffman; Fiscal Year: 2005

Detail Information

Publications314 found, 100 shown here

  1. ncbi Interferon-alpha as a treatment modality for colchicine- resistant familial Mediterranean fever
    Nurit Tweezer-Zaks
    Heller Institute of Medical Research, Sheba Medical Center, Tel Hashomer, affiliated with Sackler Faculty of Medicine, Tel Aviv University, Tel Aviv, Israel
    J Rheumatol 35:1362-5. 2008
    Previous reports on interferon-alpha (IFN-alpha) were conflicting with respect to its efficacy in familial Mediterranean fever (FMF) refractory to colchicine treatment...
  2. ncbi Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, England
    Cell 97:133-44. 1999
    ..TNFR1-associated periodic syndromes (TRAPS) establish an important class of mutations in TNF receptors. Detailed analysis of one such mutation suggests impaired cytokine receptor clearance as a novel mechanism of disease...
  3. ncbi Clinical disease among patients heterozygous for familial Mediterranean fever
    Dina Marek-Yagel
    Danek Gertner Institute of Human Genetics, Sheba Medical Center, Tel Hashomer, Israel, and Sackler School of Medicine, Tel Aviv University, Ramat Aviv, Israel
    Arthritis Rheum 60:1862-6. 2009
    To define the molecular basis of familial Mediterranean fever (FMF) in patients with only 1 mutation in the MEFV gene.
  4. ncbi The pharmacologic basis of treatment with colchicine in children with familial Mediterranean fever
    D Rigante
    Centre of Periodic Fevers, Department of Pediatric Sciences, Universita Cattolica del Sacro Cuore, Rome, Italy
    Eur Rev Med Pharmacol Sci 10:173-8. 2006
    b>Familial Mediterranean fever (FMF) is the prototype of auto-inflammatory disorders and is ethnically restricted to people living in the Mediterranean basin and Middle-East...
  5. ncbi Familial Mediterranean fever: new phenotypes
    Alessandra Soriano
    Periodic Fever Research Centre, National Reference Centre for FMF, Catholic University of the Sacred Heart, Rome, Italy
    Autoimmun Rev 12:31-7. 2012
    b>Familial Mediterranean fever (FMF) is an inherited autosomal recessive disorder, ethnically restricted and commonly found among individuals of Mediterranean descent, caused by MEditerranean FeVer gene (MEFV) mutations on chromosome 16...
  6. ncbi Treatment options in colchicine resistant familial Mediterranean fever patients: thalidomide and etanercept as adjunctive agents
    E Seyahi
    Division of Rheumatology, Department of Medicine, Cerrahpasa Medical Faculty, University of Istanbul, Istanbul, Turkey
    Clin Exp Rheumatol 24:S99-103. 2006
    ..Regular colchicine treatment cannot control the typical febrile attacks of FMF in about 5-10% of the compliant patients. Here we report the effect of thalidomide and etanercept in 5 colchicine-resistant cases...
  7. ncbi The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    Keith M Hull
    Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Medicine (Baltimore) 81:349-68. 2002
    ..Our laboratories are currently undertaking both clinical and basic research studies to define the role of these mutations in more common inflammatory diseases...
  8. pmc Autoinflammatory genes and susceptibility to psoriatic juvenile idiopathic arthritis
    T G Day
    University of Manchester, Manchester, UK
    Arthritis Rheum 58:2142-6. 2008
    ..To investigate the association of NLRP3, NOD2, MEFV, and PSTPIP1, genes that cause 4 of the autoinflammatory hereditary periodic fever syndromes (HPFS), with juvenile idiopathic arthritis (JIA)...
  9. ncbi Assessment of atrial conduction time in patients with familial Mediterranean fever
    Gurkan Acar
    Faculty of Medicine, Department of Cardiology, Kahramanmaras Sutcu Imam University, Kahramanmaras, Turkey
    Pacing Clin Electrophysiol 32:308-13. 2009
    Increased inflammatory activity is known to be a pathophysiologic characteristic of atrial fibrillation. Familial Mediterranean fever (FMF) is a disease characterized by recurrent and sustained increased inflammatory activity...
  10. ncbi Familial clustering of recurrent pericarditis may disclose tumour necrosis factor receptor-associated periodic syndrome
    Luca Cantarini
    Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Clin Exp Rheumatol 28:405-7. 2010
    ..Our aim was to investigate the possible involvement of mutations in the TNFRSF1A gene in a cohort of patients affected with idiopathic recurrent pericarditis...
  11. pmc Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study
    Ariel C Bulua
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA
    Arthritis Rheum 64:908-13. 2012
    ..To investigate the efficacy of etanercept in improving the symptoms and underlying inflammation in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS)...
  12. ncbi Familial Mediterranean fever and related periodic fever syndromes/autoinflammatory diseases
    Sinisa Savic
    Department of Clinical Immunology, NIHR Leeds Musculoskeletal Biomedical Research Unit NIHR LMBRU, Leeds Institute of Molecular Medicine, St James s University Hospital, Leeds, UK
    Curr Opin Rheumatol 24:103-12. 2012
    ..This review provides an overview of the primary research and an update on the main clinical developments in these disorders published in the past 12-18 months...
  13. ncbi Failure of anti-TNF therapy in TNF Receptor 1-Associated Periodic Syndrome (TRAPS)
    S Jacobelli
    Rheumatology (Oxford) 46:1211-2. 2007
  14. ncbi Idiopathic recurrent pericarditis refractory to colchicine treatment can reveal tumor necrosis factor receptor-associated periodic syndrome
    L Cantarini
    Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Int J Immunopathol Pharmacol 22:1051-8. 2009
    ..Autoinflammatory syndromes include familial Mediterranean fever (FMF), due to mutations in the MEFV gene, and tumor necrosis factor receptor-associated periodic ..
  15. ncbi Rilonacept for colchicine-resistant or -intolerant familial Mediterranean fever: a randomized trial
    Philip J Hashkes
    Pediatric Rheumatology Unit, Shaare Zedek Medical Center, POB 3235, Jerusalem, 91031 Israel
    Ann Intern Med 157:533-41. 2012
    Currently, there is no proven alternative therapy for patients with familial Mediterranean fever (FMF) that is resistant to or intolerant of colchicine. Interleukin-1 is a key proinflammatory cytokine in FMF.
  16. ncbi Familial Mediterranean fever responds well to infliximab: single case experience
    Salih Ozgocmen
    Division of Rheumatology, Department of Physical Medicine and Rehabilitation, Faculty of Medicine, Firat University, Elazig, Turkey
    Clin Rheumatol 25:83-7. 2006
    The most common arthritic involvement in familial Mediterranean fever (FMF) is acute recurrent monoarthritis; however, sometimes spondyloarthropathy-like findings or typical ankylosing spondylitis may also ensue...
  17. ncbi Oxidative DNA damage in polymorphonuclear leukocytes of patients with familial Mediterranean fever
    Guldal Kirkali
    Chemical Science and Technology Laboratory, National Institute of Standards and Technology, Gaithersburg, MD 20899, USA
    Free Radic Biol Med 44:386-93. 2008
    b>Familial Mediterranean fever (FMF) is an autosomal recessively inherited disorder characterized by recurrent, inflammatory self-limited episodes of fever and other symptoms...
  18. ncbi A diagnostic score for molecular analysis of hereditary autoinflammatory syndromes with periodic fever in children
    M Gattorno
    Giannina Gaslini Institute, Genoa, Italy
    Arthritis Rheum 58:1823-32. 2008
    ..To identify a set of clinical parameters that can predict the probability of carrying mutations in one of the genes associated with hereditary autoinflammatory syndromes...
  19. pmc The tumor-necrosis-factor receptor-associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic heterogeneity of periodic fevers
    I Aksentijevich
    Section of Genetics, Arthritis and Rheumatism Branch, National Institutes of Health, Bethesda, MD 20892, USA
    Am J Hum Genet 69:301-14. 2001
    ....
  20. pmc Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
    Matthew G Booty
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1820, USA
    Arthritis Rheum 60:1851-61. 2009
    b>Familial Mediterranean fever (FMF) has traditionally been considered an autosomal-recessive disease; however, it has been observed that a substantial number of patients with clinical FMF possess only 1 demonstrable MEFV mutation...
  21. ncbi Persistent efficacy of anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome
    M Gattorno
    Istituto Giannina Gaslini, Genoa, Italy
    Arthritis Rheum 58:1516-20. 2008
    ..To evaluate the efficacy and safety of treatment with the interleukin-1 receptor antagonist anakinra in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS) requiring high cumulative doses of steroids...
  22. ncbi The spectrum of Familial Mediterranean Fever (FMF) mutations
    I Touitou
    Hopital A de Villeneuve, Montpellier, France
    Eur J Hum Genet 9:473-83. 2001
    b>Familial Mediterranean Fever (FMF) is the prototype of a group of inherited inflammatory disorders. The gene (MEFV) responsible for this disease, comprises 10 exons and 781 codons...
  23. ncbi Familial Mediterranean fever: clinical, molecular and management advancements
    M Lidar
    Heller Institute of Medical Research, Sheba Medical Centre, Tel Hashomer, affiliated with the Sackler School of Medicine, Tel Aviv University, Tel Aviv, Israel
    Neth J Med 65:318-24. 2007
    b>Familial Mediterranean fever (FMF), the most frequent of the periodic fever syndromes, is an autosomal recessive disease, predominantly affecting people of Mediterranean descent...
  24. ncbi Systemic cytokine levels and the effects of etanercept in TNF receptor-associated periodic syndrome (TRAPS) involving a C33Y mutation in TNFRSF1A
    M L Nowlan
    Division of Immunology, University of Nottingham, Queen s Medical Centre, Nottingham NG7 2UH, UK
    Rheumatology (Oxford) 45:31-7. 2006
    ....
  25. ncbi Mutations in the gene for familial Mediterranean fever: do they predispose to inflammation?
    Seza Ozen
    Department of Pediatrics, Hacettepe University, 06100 Ankara, Turkey
    J Rheumatol 30:2014-8. 2003
    ..70 individuals who were found to have the Mediterranean fever (MEFV) gene for the presence of definite familial Mediterranean fever (FMF) and to assess if they were prone to clinical and laboratory inflammation...
  26. ncbi The enlarging clinical, genetic, and population spectrum of tumor necrosis factor receptor-associated periodic syndrome
    Catherine Dode
    Hopital Cochin, Institut Cochin, and Institut fédéritif de recherche, de l INSERM, Universite Paris V, Paris, France
    Arthritis Rheum 46:2181-8. 2002
    ..To characterize the frequency, clinical signs, and genotypic features of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a series of 394 patients of various ethnic origins who have recurrent inflammatory syndromes...
  27. ncbi Clinical and genetic features of familial Mediterranean fever in Japan
    Ayako Tsuchiya-Suzuki
    Departments of Medicine Neurology and Rheumatology andPediatrics, Shinshu University School of Medicine, Matsumoto and theNational Center of Neurology and Psychiatry, Tokyo, Japan
    J Rheumatol 36:1671-6. 2009
    b>Familial Mediterranean fever (FMF) is thought to be a rare disorder in Japan, and the clinical features of Japanese patients with FMF remain unclear. Our aim was to elucidate the clinical characteristics of FMF in Japanese patients.
  28. pmc Clinical significance of P46L and R92Q substitutions in the tumour necrosis factor superfamily 1A gene
    N Ravet
    Service de Medecine Interne, Hopital Tenon, 4 rue de la Chine, 75970 Paris Cedex 20, Paris, France
    Ann Rheum Dis 65:1158-62. 2006
    ..However, the nature of two substitutions, P46L and R92Q, remains a topic of discussion. The aim of this study was to assess the actual role of these two sequence variations in a series of patients with TRAPS...
  29. ncbi Genotype-phenotype studies in a large cohort of Armenian patients with familial Mediterranean fever suggest clinical disease with heterozygous MEFV mutations
    Mike M Moradian
    Center of Medical Genetics and Primary Health Care, Department of Molecular Genetics, Yerevan, Armenia
    J Hum Genet 55:389-93. 2010
    b>Familial Mediterranean fever (FMF) is an autoinflammatory disorder generally caused by recessively inherited mutations in the MEFV gene...
  30. ncbi Myocarditis and sacroiliitis: 2 previously unrecognized manifestations of tumor necrosis factor receptor associated periodic syndrome
    Stephanie Trost
    Department of Rheumatology, Alfred I duPont Hospital for Children, Wilmington, Delaware 19899, USA
    J Rheumatol 32:175-7. 2005
    ..We describe a 9-year-old African American boy with the P46L mutation of the TNF receptor who presented with 2 previously unrecognized manifestations: sacroiliitis and myocardiopathy, both showing a reversible course...
  31. pmc INFEVERS: the Registry for FMF and hereditary inflammatory disorders mutations
    Cyril Sarrauste de Menthiere
    Institute of Human Genetics CNRS UPR 1142, 141, rue de la Cardonille, 34396 Montpellier Cedex 5, France
    Nucleic Acids Res 31:282-5. 2003
    ..e. Familial Mediterranean Fever (FMF), TRAPS (TNF Receptor 1A Associated Syndrome), HIDS (HyperIgD Syndrome), MWS (Muckle-Wells ..
  32. ncbi Colchicine nonresponsiveness in familial Mediterranean fever: clinical, genetic, pharmacokinetic, and socioeconomic characterization
    Merav Lidar
    Heller Institute of Medical Research, Sheba Medical Center, Sackler Faculty of Medicine, Tel Aviv University, Tel Hashomer, Israel
    Semin Arthritis Rheum 33:273-82. 2004
    To identify the ethnic, clinical, genetic, and pharmacokinetic correlates of colchicine treatment failure in patients with familial Mediterranean fever (FMF).
  33. ncbi Autoinflammatory syndromes and cellular responses to stress: pathophysiology, diagnosis and new treatment perspectives
    Sinisa Savic
    Department of Clinical Immunology, St James s University Hospital, Leeds, UK
    Best Pract Res Clin Rheumatol 26:505-33. 2012
    ....
  34. ncbi Triggers for attacks in familial Mediterranean fever: application of the case-crossover design
    Gayane Yenokyan
    Johns Hopkins Biostatistics Center, Johns Hopkins Bloomberg School of Public Health, 615 North Wolfe Street, E 3153, Baltimore, MD 21205 2179, USA
    Am J Epidemiol 175:1054-61. 2012
    The etiology of recurrent attacks of serositis in familial Mediterranean fever (FMF) is not completely understood...
  35. ncbi Characteristics of patients with adult-onset familial Mediterranean fever in Turkey: analysis of 401 cases
    M Sayarlioglu
    Division of Rheumatology, Department of Internal Medicine, Istanbul Medical Faculty, Istanbul University, Istanbul, Turkey
    Int J Clin Pract 59:202-5. 2005
    It has been generally accepted that the clinical onset of familial Mediterranean fever (FMF) begins before 20 years of age in most patients...
  36. ncbi Spectrum of mutations and carrier frequency of familial Mediterranean fever gene in the Algerian population
    Djouher Ait-Idir
    Faculte des Sciences Biologiques, Universite des Sciences et de laTechnologie Houari Boumediene, Alger
    Rheumatology (Oxford) 50:2306-10. 2011
    ..Using the same methodology, we also studied the carrier rate in an unaffected ethnically matched control cohort...
  37. ncbi Familial Mediterranean fever in the Syrian population: gene mutation frequencies, carrier rates and phenotype-genotype correlation
    Hanadi Mattit
    Biochemistry Department, Faculty of Pharmacy, Damascus University, Damascus, Syria
    Eur J Med Genet 49:481-6. 2006
    b>Familial Mediterranean fever (FMF) is an autosomal recessive disease mainly affecting particularly Arabs, Non-Ashkenazi Jews, Armenians, and Turks...
  38. ncbi Development and preliminary validation of a diagnostic score for identifying patients affected with adult-onset autoinflammatory disorders
    L Cantarini
    Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Italy
    Int J Immunopathol Pharmacol 23:1133-41. 2010
    ..94). We have identified variables that appear to be strongly related to the probability of detecting gene mutations in MEF and TNFRSF1A in adults, thus improving the evaluation of patients with suspected autoinflammatory disorders...
  39. ncbi As a new inflammatory marker for familial Mediterranean fever: neutrophil-to-lymphocyte ratio
    Ahmet Ahsen
    Department of Internal Medicine, Afyon Kocatepe University School of Medicine, Iç Hastaliklari A D, 03200, Afyonkarahisar, Turkey
    Inflammation 36:1357-62. 2013
    b>Familial Mediterranean fever (FMF), which is an autosomal recessive disease, is characterised by recurrent febrile episodes in association with peritonitis, pleuritis and arthritis and has ongoing subclinical inflammation during attack-..
  40. ncbi Common Familial Mediterranean Fever gene mutations in a Turkish cohort
    Munis Dundar
    Department of Medical Genetics, Erciyes University Medicine Faculty Kayseri, 38039 Kayseri, Turkey
    Mol Biol Rep 38:5065-9. 2011
    b>Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder with the responsible gene of MEFV which primarily affects Jewish, Armenian, Turkish and Arab populations...
  41. ncbi Familial Mediterranean Fever in Lebanon: founder effects for different MEFV mutations
    Nadine Jalkh
    Unite de Genetique Medicale, Faculte de Medecine, Université Saint Joseph, Beirut, Lebanon
    Ann Hum Genet 72:41-7. 2008
    Haplotype analysis of 376 Familial Mediterranean Fever (FMF) patients and 100 controls from Lebanon was performed using 4 microsatellite loci to study founder effects for the five most frequent mutations within the MEFV gene (M694V, M694I,..
  42. pmc The first case of familial Mediterranean fever associated with renal amyloidosis in Korea
    Kyo Yeon Koo
    Department of Clinical Genetics, Yonsei University College of Medicine, Seoul Korea
    Yonsei Med J 53:454-8. 2012
    b>Familial Mediterranean fever (FMF) is an auto-inflammatory disease characterized by periodic episodes of fever and recurrent polyserositis...
  43. ncbi [Familial Mediterranean fever as representative autoinflammatory disease]
    Kazuko Yamazaki
    Department of Infection and Host Defense, Graduate School of Medicine, Shinshu University, Matusmoto 390 8621, Japan
    Rinsho Byori 57:371-81. 2009
    b>Familial Mediterranean fever (FMF) is the most common of the hereditary periodic fevers. FMF is an autosomal recessive disease that affects populations among non-Ashkenazi Jews, Arabs, Turks, and Armenians...
  44. ncbi Prevalence and distribution of MEFV mutations among Arabs from the Maghreb patients suffering from familial Mediterranean fever
    Latifa Belmahi
    Laboratoire de Genetique, Institut National D Hygiene, 11400 Rabat, Morocco
    C R Biol 329:71-4. 2006
    b>Familial Mediterranean fever (FMF) is an autosomal recessive inherited disease caused by mutations in MEFV. This disease is characterized by recurrent episodes of fever accompanied with topical signs of inflammation...
  45. ncbi Unilateral lymphocytic pleuritis as a manifestation of familial Mediterranean fever
    Stamatis Katsenos
    Department of Pneumonology, Army General Hospital of Athens, Athens, Greece
    Chest 133:999-1001. 2008
    b>Familial Mediterranean fever (FMF) is an autosomal recessive disease affecting predominantly populations surrounding the Mediterranean basin...
  46. pmc E148Q is a disease-causing MEFV mutation: a phenotypic evaluation in patients with familial Mediterranean fever
    R Topaloglu
    Hacettepe University Faculty of Medicine, Department of Paediatric Nephrology and Rheumatology, 06100 Ankara, Turkey
    Ann Rheum Dis 64:750-2. 2005
    b>Familial Mediterranean fever (FMF) is one of the periodic fever syndromes. It is common among Turks, Jews, Arabs, and Armenians. Several mutations in the MEFV gene, including E148Q, have been identified as causing this disease...
  47. ncbi Successful treatment with infliximab and low-dose methotrexate in a Japanese patient with familial Mediterranean fever
    Akinori Nakamura
    Department of Rheumatology and Collagen Disease, Shinshu University School of Medicine, Matsumoto
    Intern Med 46:1247-9. 2007
    We report a Japanese patient with familial Mediterranean fever (FMF) who was successfully treated with the anti-tumor necrosis factor (TNF)-alpha monoclonal antibody, infliximab, and low-dose methotrexate...
  48. ncbi Expression of the familial Mediterranean fever gene is regulated by nonsense-mediated decay
    Sylvie Grandemange
    Génétique des Maladies Auto Inflammatoires, Institut de Genetique Humaine, CNRS UPR1142, Montpellier, France
    Hum Mol Genet 18:4746-55. 2009
    Mutations in the MEditerranean FeVer (MEFV) gene are responsible for familial Mediterranean fever (FMF), a recessively inherited auto-inflammatory disease...
  49. ncbi Late-onset tumor necrosis factor receptor-associated periodic syndrome in multiple sclerosis patients carrying the TNFRSF1A R92Q mutation
    Tania Kümpfel
    Institute of Clinical Neuroimmunology Grosshadern, Ludwig Maximilian University of Munich, Marchioninistrasse 15, D 81377 Munich, Germany
    Arthritis Rheum 56:2774-83. 2007
    ..We undertook this study to investigate the prevalence of TRAPS in patients with multiple sclerosis (MS) who reported, in addition to their neurologic symptoms, at least 2 other symptoms compatible with TRAPS...
  50. ncbi Country as the primary risk factor for renal amyloidosis in familial Mediterranean fever
    Isabelle Touitou
    Hopital Arnaud de Villeneuve, Montpellier, France
    Arthritis Rheum 56:1706-12. 2007
    b>Familial Mediterranean fever (FMF), the prototype of autoinflammatory disorders, is caused by recessive mutations in the MEFV gene. Some FMF patients develop renal amyloidosis, a potentially fatal condition...
  51. ncbi Allelic variants in genes associated with hereditary periodic fever syndromes as susceptibility factors for reactive systemic AA amyloidosis
    E Aganna
    Department of Diabetes and Metabolic Medicine, Barts and London, Queen Mary s School of Medicine and Dentistry, Whitechapel, London, UK
    Genes Immun 5:289-93. 2004
    ..Although allelic variants in HPFs genes are not major susceptibility factors for AA amyloidosis in chronic inflammatory disease, low-penetrance variants of MEFV and TNFRSF1A may have clinically significant proinflammatory effects...
  52. ncbi Heterogeneity among patients with tumor necrosis factor receptor-associated periodic syndrome phenotypes
    Ebun Aganna
    Barts and London, Queen Mary s School of Medicine and Dentistry, London, UK
    Arthritis Rheum 48:2632-44. 2003
    ..To investigate the prevalence of tumor necrosis factor receptor-associated periodic syndrome (TRAPS) among outpatients presenting with recurrent fevers and clinical features consistent with TRAPS...
  53. ncbi Infevers: an evolving mutation database for auto-inflammatory syndromes
    Isabelle Touitou
    Hopital A de Villeneuve, Laboratoire de Genetique, Montpellier, France
    Hum Mutat 24:194-8. 2004
    ..access to a central source of information about all sequence variants associated with periodic fevers: Familial Mediterranean fever (FMF), TNF Receptor Associated Periodic Syndrome (TRAPS), Hyper IgD Syndrome (HIDS), Familial Cold ..
  54. pmc Clinical features and functional significance of the P369S/R408Q variant in pyrin, the familial Mediterranean fever protein
    J G Ryan
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, Building 10, Magnuson Clinical Center, 10C101C, Bethesda, Maryland 20892, USA
    Ann Rheum Dis 69:1383-8. 2010
    b>Familial Mediterranean fever (FMF) is caused by mutations in MEFV, which encodes pyrin. The nature of substitutions P369S and R408Q in exon 3 remains unclear...
  55. ncbi The contribution of genotypes at the MEFV and SAA1 loci to amyloidosis and disease severity in patients with familial Mediterranean fever
    Ruth Gershoni-Baruch
    Rambam Medical Center, Haifa, Israel
    Arthritis Rheum 48:1149-55. 2003
    The clinical profile in familial Mediterranean fever (FMF), including its major manifestation, amyloidosis, is influenced by MEFV allelic heterogeneity and other genetic and/or environmental factors...
  56. ncbi Current perspectives on familial Mediterranean fever
    Galip Guz
    Department of Internal Medicine Nephrology, Gazi University Faculty of Medicine, Ankara, Turkey
    Curr Opin Infect Dis 22:309-15. 2009
    The gene responsible for familial Mediterranean Fever (FMF), MEditerranean FeVer (MEFV), was identified two decades ago; however, only recent studies have shed light on its pathogenesis...
  57. ncbi Pharmacological and clinical basis of treatment of Familial Mediterranean Fever (FMF) with colchicine or analogues: an update
    C Cerquaglia
    Department of Internal Medicine, Catholic University, Largo F Vito 1, 00168 Rome, Italy
    Curr Drug Targets Inflamm Allergy 4:117-24. 2005
    b>Familial Mediterranean Fever (FMF), an autosomal recessive disorder, is characterised by recurrent attacks of fever and serositis, lasting 24-72 hours...
  58. ncbi Anti-IL-1 treatment for secondary amyloidosis in an adolescent with FMF and Behçet's disease
    Yelda Bilginer
    Department of Pediatrics, Nephrology and Rheumatology Unit, Hacettepe University School of Medicine, Sihhiye, 06100, Ankara, Turkey
    Clin Rheumatol 29:209-10. 2010
    b>Familial Mediterranean fever (FMF) is associated with mutations in the gene coding for pyrin which lead to accentuated innate immune responses resulting in increased production of IL-1...
  59. ncbi Chronic inflammation in FMF: markers, risk factors, outcomes and therapy
    Ilan Ben-Zvi
    Department of Medicine F, Sheba Medical Center, Tel Hashomer 52621, Israel
    Nat Rev Rheumatol 7:105-12. 2011
    b>Familial Mediterranean fever (FMF) is the most common of the hereditary periodic fever syndromes...
  60. ncbi The genetic basis of autosomal dominant familial Mediterranean fever
    D R Booth
    Centre for Amyloidosis and Acute Phase Proteins, Department of Medicine, Royal Free and University College Medical School, Royal Free Campus, London, UK
    QJM 93:217-21. 2000
    b>Familial Mediterranean fever (FMF) is classically an autosomal recessive periodic inflammatory disease occurring in Mediterranean and Middle Eastern populations...
  61. ncbi Tumor necrosis factor receptor I from patients with tumor necrosis factor receptor-associated periodic syndrome interacts with wild-type tumor necrosis factor receptor I and induces ligand-independent NF-kappaB activation
    Nasim Yousaf
    Barts and The London Queen Mary s School of Medicine and Dentistry, University of London, London, UK
    Arthritis Rheum 52:2906-16. 2005
    ..To investigate the molecular consequences of expressing mutated forms of tumor necrosis factor receptor I (TNFRI) as found in patients with TNFR-associated periodic syndrome (TRAPS)...
  62. ncbi Hereditary periodic fever and reactive amyloidosis
    J C H van der Hilst
    Division of General Internal Medicine, Department of Medicine, Radboud University Nijmegen Medical Center, 9101, 6500, HB Nijmegen, The Netherlands
    Clin Exp Med 5:87-98. 2005
    ..b>Familial Mediterranean fever (FMF) is the most frequent entity within this group of disorders which further consists of ..
  63. pmc Mutant forms of tumour necrosis factor receptor I that occur in TNF-receptor-associated periodic syndrome retain signalling functions but show abnormal behaviour
    Ian Todd
    Institute of Infection, Immunity and Inflammation, Division of Immunology, School of Molecular Medical Sciences, University of Nottingham, UK
    Immunology 113:65-79. 2004
    ....
  64. ncbi Disease severity in children and adolescents with familial Mediterranean fever: a comparative study to explore environmental effects on a monogenic disease
    S Ozen
    Department of Paediatrics, Hacettepe University, Faculty of Medicine, 06100 Ankara, Turkey
    Ann Rheum Dis 68:246-8. 2009
    Worldwide, familial Mediterranean fever (FMF) is the most common autoinflammatory disease. It has been suggested that environmental factors affect the phenotype as some patients do not develop the complication of secondary amyloidosis.
  65. ncbi The population genetics of familial mediterranean fever: a meta-analysis study
    V P Papadopoulos
    First Department of Internal Medicine, Democritus University of Thrace, Alexandroupolis, Greece
    Ann Hum Genet 72:752-61. 2008
    Our aim was to construct a Familial Mediterranean Fever (FMF) cumulative database and to propose a MEFV based phylogenetic tree. Data were collected from published studies...
  66. pmc Coexistent MEFV and CIAS1 mutations manifesting as familial Mediterranean fever plus deafness
    Davinder Singh-Grewal
    Ann Rheum Dis 66:1541. 2007
  67. pmc Mutation and haplotype studies of familial Mediterranean fever reveal new ancestral relationships and evidence for a high carrier frequency with reduced penetrance in the Ashkenazi Jewish population
    I Aksentijevich
    Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892 1820, USA
    Am J Hum Genet 64:949-62. 1999
    b>Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever with serositis or synovitis. The FMF gene (MEFV) was cloned recently, and four missense mutations were identified...
  68. ncbi Familial Mediterranean fever
    Fatos Onen
    Division of Immunology and Rheumatology, Department of Internal Medicine, Dokuz Eylul University School of Medicine, 35340, Balcova Izmir, Turkey
    Rheumatol Int 26:489-96. 2006
    b>Familial Mediterranean fever (FMF) is the most frequent hereditary inflammatory disease characterized by self-limited recurrent attacks of fever and serositis...
  69. pmc Acute phase response in familial Mediterranean fever
    C Korkmaz
    Department of Rheumatology, Medical School of Osmangazi University, Eskisehir, Turkey
    Ann Rheum Dis 61:79-81. 2002
    To test the hypothesis that not all acute phase reactants respond in the same way during attacks of familial Mediterranean fever (FMF) and that there is a subclinical acute phase response (APR) in a proportion of patients during the ..
  70. pmc Increased oxidative stress in patients with familial Mediterranean fever during attack period
    L Ediz
    Yuzuncu Yil University, Medical Faculty, Physical Medicine Rehabilitation and Rheumatology Department, Van, Turkey
    Afr Health Sci 11:S6-13. 2011
    We aimed to investigate the status of oxidant and antioxidants during attack period (AP) and attack free periods (AFP) in Familial Mediterranean fever (FMF) patients.
  71. ncbi The regulation of MEFV expression and its role in health and familial Mediterranean fever
    S Grandemange
    Unité Médicale des Maladies Auto Inflammatoires, CHRU de Montpellier, INSERM U844, UM1, Hopital Arnaud de Villeneuve, Montpellier, France
    Genes Immun 12:497-503. 2011
    b>Familial Mediterranean fever (FMF) is a hereditary recurrent fever associated with mutations in the gene MEFV encoding pyrin...
  72. ncbi Evaluation of various cardiac autonomic indices in patients with familial Mediterranean fever on colchicine treatment
    Ugur Canpolat
    Department of Cardiology, Hacettepe University, Ankara, Turkey
    Auton Neurosci 167:70-4. 2012
    b>Familial Mediterranean fever (FMF) is characterized by sporadic, acute attacks of fever and serositis. Cardiovascular involvement is one of the leading cause of morbidity and mortality among FMF patients...
  73. ncbi Familial Mediterranean fever
    Aysin Bakkaloglu
    Department of Pediatrics, Pediatric Nephrology and Rheumatology Unit, Faculty of Medicine, Hacettepe University, Ankara 06100, Turkey
    Pediatr Nephrol 18:853-9. 2003
    b>Familial Mediterranean fever (FMF) is the most frequent periodic syndrome characterized by recurrent attacks of polyserositis. Fever, abdominal pain, chest pain, and arthritis/arthralgia are the leading symptoms...
  74. ncbi Anti-TNF agents in familial Mediterranean fever: report of three cases and review of the literature
    Salih Ozgocmen
    Division of Rheumatology, Dept PMR, Gevher Nesibe Hospital, Erciyes University, School of Medicine, 38039 Kayseri, Turkey
    Mod Rheumatol 21:684-90. 2011
    b>Familial Mediterranean fever (FMF) is an autoinflammatory disease characterized by recurrent fever, peritonitis/pleuritis, or arthritis attacks. Patients may have FMF-associated mutations of pyrin...
  75. ncbi Coexistence of familial Mediterranean fever and psoriasis in a patient with seronegative spondyloarthropathy
    Hatice Bodur
    Deparment of Physical Medicine and Rehabilitation, Ankara Numune Education and Research Hospital, Ankara, Turkey
    Rheumatol Int 29:107-10. 2008
    b>Familial Mediterranean fever (FMF) is a self-limited disease characterized by fever and polyserositis attacks...
  76. ncbi Comment on: Failure of anti-TNF therapy in TNF receptor 1-associated periodic syndrome (TRAPS)
    E Drewe
    Rheumatology (Oxford) 46:1865-6. 2007
  77. ncbi Selective serotonin reuptake inhibitors reduce the attack frequency in familial mediterranean Fever
    Ahmet Mesut Onat
    Department of Rheumatology, Gaziantep University Hospitals, Mavi C 11 1, Sahinbey, Gaziantep, Turkey
    Tohoku J Exp Med 211:9-14. 2007
    b>Familial Mediterranean Fever (FMF) is characterized by recurrent acute attacks of fever and serositis, and colchicine is the primary treatment. The pathogenesis of the disease has not been fully understood...
  78. pmc Involvement of the modifier gene of a human Mendelian disorder in a negative selection process
    Isabelle Jeru
    INSERM, U933, Paris, France
    PLoS ONE 4:e7676. 2009
    ..identified in humans: this gene influences the risk of renal amyloidosis (RA) in patients with familial Mediterranean fever (FMF), a Mendelian autoinflammatory disorder associated with mutations in MEFV...
  79. ncbi Different ELR (+) angiogenic CXC chemokine profiles in synovial fluid of patients with Behçet's disease, familial Mediterranean fever, rheumatoid arthritis, and osteoarthritis
    Hakan Erdem
    Department of Rheumatology, Gulhane Military School of Medicine, Etlik, Ankara 06018, Turkey
    Rheumatol Int 26:162-7. 2005
    ..The study group consisted of 14 patients with Behçet's disease and nine with familial Mediterranean fever. Fourteen patients with rheumatoid arthritis and 16 with osteoarthritis served as controls...
  80. ncbi Successful pregnancies in dialysis patients including those suffering from cystinosis and familial Mediterranean fever
    Michael Haase
    Department of Nephrology, Charite University Medicine, Berlin Germany
    J Nephrol 19:677-81. 2006
    ..present case series also includes the first successful pregnancy of a dialysis patient with underlying familial Mediterranean fever, and of a dialysis patient with cystinosis...
  81. ncbi Innate versus acquired immune response in the pathogenesis of recurrent idiopathic pericarditis
    Luca Cantarini
    Interdepartmental Research Center of Systemic Autoimmune and Autoinflammatory Diseases, Unit of Rheumatology, Policlinico Le Scotte, University of Siena, Siena, Italy
    Autoimmun Rev 9:436-40. 2010
    ..Ongoing basic and clinical research is needed to provide further evidence for the understanding of this common and troublesome disease, and to develop targeted and more efficacious therapies...
  82. ncbi Mutation of a new gene encoding a putative pyrin-like protein causes familial cold autoinflammatory syndrome and Muckle-Wells syndrome
    H M Hoffman
    Ludwig Institute for Cancer Research, University of California School of Medicine, San Diego, California, USA
    Nat Genet 29:301-5. 2001
    ....
  83. ncbi Composition of urinary glycosaminoglycans in a patient with pseudoxanthoma elasticum and familial Mediterranean fever
    Nicola Volpi
    Clin Chim Acta 359:207-9. 2005
  84. ncbi MEFV mutation analysis of familial Mediterranean fever in Japan
    N Tomiyama
    Department of Cardiovascular Medicine, Nephrology and Neurology, University of the Ryukyus, Nishihara, Okinawa, Japan
    Clin Exp Rheumatol 26:13-7. 2008
    b>Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent attacks of fever with serosal inflammation...
  85. pmc Gene localization for an autosomal dominant familial periodic fever to 12p13
    J Mulley
    Department of Cytogenetics and Molecular Genetics, Center for Medical Genetics, Women s and Children s Hospital, North Adelaide, SA 5006, Australia
    Am J Hum Genet 62:884-9. 1998
    ..are similar to the disorder previously described as familial Hibernian fever, and they differ from familial Mediterranean fever (FMF) in that FPF episodes usually do not respond to colchicine and FPF is not associated with ..
  86. ncbi Unresponsiveness to colchicine therapy in patients with familial Mediterranean fever homozygous for the M694V mutation
    Oguz Soylemezoglu
    Department of Pediatric Nephrology, Gazi University Medical Hospital, Ankara, Turkey
    J Rheumatol 37:182-9. 2010
    More than 50 disease-associated mutations of the Mediterranean fever gene (MEFV) have been identified in familial Mediterranean fever (FMF), some of which were shown to have different clinical, diagnostic, prognostic, and therapeutic ..
  87. ncbi Familial Mediterranean fever and glomerulonephritis and review of the literature
    Tekin Akpolat
    School of Medicine, Dept of Nephrology, Ondokuz Mayis University, Samsun 55139, Turkey
    Rheumatol Int 24:43-5. 2004
    b>Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by recurrent and self-limited attacks of fever usually accompanied by polyserositis. Amyloidosis is its most common renal complication...
  88. ncbi The frequency of sacroiliitis in familial Mediterranean fever and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis
    Timucin Kasifoglu
    Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey
    Clin Rheumatol 28:41-6. 2009
    The objective of this study was to investigate the frequency of sacroiliitis in familial Mediterranean fever (FMF) patients and the role of HLA-B27 and MEFV mutations in the development of sacroiliitis...
  89. ncbi A single testing of serum amyloid a levels as a tool for diagnosis and treatment dilemmas in familial Mediterranean fever
    Yackov Berkun
    Department of Pediatrics, Safra Children s Hospital, Sheba Medical Center, Tel Hashomer, Israel
    Semin Arthritis Rheum 37:182-8. 2007
    In a significant proportion of patients with familial Mediterranean fever (FMF), serum amyloid A (SAA) remains elevated during attack-free periods, thereby increasing the risk of developing amyloidosis...
  90. ncbi Interleukin-1 targeting drugs in familial Mediterranean fever: a case series and a review of the literature
    Ulrich Meinzer
    Division of Paediatric Rheumatology, CEREMAI, Hopital de Bicetre, University of Paris Sud, Le Kremlin Bicetre Cedex, France
    Semin Arthritis Rheum 41:265-71. 2011
    b>Familial Mediterranean fever (FMF) is an autosomal-recessive autoinflammatory disorder common in Mediterranean populations. FMF is associated with mutations of the MEFV gene, which encodes pyrin...
  91. ncbi Efficacy of anakinra treatment in a patient with colchicine-resistant familial Mediterranean fever
    Nilufer Alpay
    Department of Internal Medicine, Istanbul School of Medicine, Istanbul University, Capa, Istanbul, Turkey
    Rheumatol Int 32:3277-9. 2012
    b>Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by self-limited recurrent attacks of fever and serositis...
  92. ncbi Autosomal dominant periodic fever with AA amyloidosis: tumor necrosis factor receptor-associated periodic syndrome (TRAPS) in a Turkish family
    Ayhan Dinc
    Department of Medicine, Division of Rheumatology, Gulhane Military School of Medicine, Ankara, Turkey
    J Nephrol 18:626-9. 2005
    ..the importance of onsidering all the causes of inherited fevers and performing thorough clinical and genetic investigations to secure a diagnosis, even in populations in which familial Mediterranean fever (FMF) is highly prevalent.
  93. ncbi Anakinra in two adolescent female patients suffering from colchicine-resistant familial Mediterranean fever: effective but risky
    R Gattringer
    Eur J Clin Invest 37:912-4. 2007
  94. ncbi The spectrum of familial Mediterranean fever gene mutations in Arabs: report of a large series
    Hasan A Majeed
    Department of Pediatrics, Faculty of Medicine, University of Jordan, Amman
    Semin Arthritis Rheum 34:813-8. 2005
    To identify the frequency and distribution of familial Mediterranean fever (FMF) gene (MEFV) mutations in Arab patients.
  95. ncbi Familial Mediterranean fever (FMF) mutations occur frequently in the Greek-Cypriot population of Cyprus
    C Constantinou Deltas
    Department of Molecular Genetics C, Cyprus Institute of Neurology and Genetics, Department of Biological Sciences, University of Cyprus, Nicosia, Cyprus
    Genet Test 6:15-21. 2002
    b>Familial Mediterranean Fever (FMF) is an autosomal recessive disease of high prevalence within Mediterranean countries and particularly common in four ethnic populations: Arabs, non-Ashkenazi Jews, Armenians, and Turks...
  96. pmc Linkage of familial Hibernian fever to chromosome 12p13
    M F McDermott
    Medical Unit, St Bartholomew s and The Royal London Hospital School of Medicine and Dentistry, Whitechapel, London, UK
    Am J Hum Genet 62:1446-51. 1998
    ....
  97. ncbi The familial Mediterranean fever protein, pyrin, associates with microtubules and colocalizes with actin filaments
    E Mansfield
    Genetics Section, Arthritis and Rheumatism Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases NIH, Bethesda, MD 20892 1820, USA
    Blood 98:851-9. 2001
    b>Familial Mediterranean fever (FMF) is a recessive disorder characterized by episodes of fever and intense inflammation...
  98. ncbi Analysis of SAA1 gene polymorphisms in the Greek population: rheumatoid arthritis and FMF patients relative to normal controls. Homogeneous distribution and low incidence of AA amyloidosis
    Clio P Mavragani
    Department of Pathophysiology, National University of Athens School of Medicine, Greece
    Amyloid 14:271-5. 2007
    ..To address whether or not the rarity of amyloidosis in Greek patients with rheumatoid arthritis (RA) is related to specific alleles of single nucleotide polymorphisms (SNPs) in the 5'-flanking region and the exon 3 of the SSA1 gene...
  99. ncbi TLR2 and TLR4 polymorphisms in familial Mediterranean fever
    Matthaios Speletas
    Department of Immunology and Histocompatibility, University of Thessaly Medical School, Larissa, Greece
    Hum Immunol 70:750-3. 2009
    ..the TLR2-R753Q, TLR4-D299G, TLR4-T399I common polymorphisms are associated with susceptibility to familial Mediterranean fever (FMF) or affect the course of the disease...
  100. ncbi Coexistence of familial Mediterranean fever and Sjögren's syndrome in a Japanese patient
    M Tanaka
    Clin Exp Rheumatol 25:792. 2007

Research Grants29

  1. Reactive (AA)Amyloidosis
    Merrill D Benson; Fiscal Year: 2013
    ..Crohn's disease), and inherited recurrent febrile diseases such as the autosomal recessive familial Mediterranean fever (FMF), and a group of autosomal dominant syndromes including TNF-alpha receptor associated periodic ..
  2. Systemic AA Amyloidosis Inhibitors
    ALAN D SNOW; Fiscal Year: 2010
    ..inflammatory bowl disease, tuberculosis, leprosy, Hodgkin's disease, renal cell carcinoma, and Familial Mediterranean Fever. The consequences of fibrillar AA amyloid deposition in systemic organs are usually fatal to patients, ..
  3. MECHANISMS OF ACTIVATION OF ICE-LIKE CYSTEINE PROTEASES
    Emad S Alnemri; Fiscal Year: 2012
    ..They have also elucidated the role of pyrin, a protein mutated in familial Mediterranean fever, in caspase-1 activation and inflammation in the human auto-inflammatory PAPA syndrome, and ..
  4. Cysteine Proteases in Apoptosis
    Emad S Alnemri; Fiscal Year: 2012
    ..from the applicant's lab suggest that pyrin, a protein mutated in the auto- inflammatory disease Familial Mediterranean fever (FMF), plays a major role in inflammation by assembling an inflammasome complex with the adaptor ..
  5. Phase II, IL-1 Trap for Treatment of Familial Mediterranean Fever
    Steven J Spalding; Fiscal Year: 2010
    b>Familial Mediterranean fever is an autosomal recessive autoinflammatory genetic disorder resulting in recurrent episodes of fever, serositis, arthritis and rash...
  6. METABOLISM OF SERUM AMYLOID A (SAA:HDL)
    Barbara Kluve Beckerman; Fiscal Year: 2007
    ..as a complication of chronic and recurrent inflammatory conditions such as rheumatoid arthritis and familial Mediterranean fever, and is characterized by extracellular fibrillar deposits of amyloid A (AA) protein, a peptide ..
  7. Systemic AA Amyloidosis Inhibitors
    ALAN SNOW; Fiscal Year: 2004
    ..inflammatory bowel diseases, tuberculosis, leprosy, Hodgkin's disease, renal cell carcinoma, and Familial Mediterranean Fever. The consequences of fibrillar AA amyloid deposition in systemic organs are detrimental to the patient, ..
  8. SYNTHETIC APPLICATIONS OF CARBENE COMPLEXES
    WILLIAM WULFF; Fiscal Year: 2003
    ..synthesis of colchicine and allocolchicinoids that have been investigated for the treatment of gout, familial Mediterranean fever and liver cirrhosis...
  9. Pyrin in Arthritis: Exression and Modulatory Role
    Arturo Diaz; Fiscal Year: 2004
    ..Research Project: Mutations of pyrin cause familial Mediterranean fever (FMF), a disease characterized by spontaneous episodes of arthritis or serosal inflammation...
  10. Novel regulatory role of cryopyrin in inflammation
    Harold Hoffman; Fiscal Year: 2005
    ..abstract_text> ..
  11. GENETIC AND MOLECULAR BASIS OF FAMILIAL COLD URTICARIA
    Harold Hoffman; Fiscal Year: 2002
    ..The achievement of these goals will result in identification of the gene responsible for familial cold urticaria which will ultimately lead to an understanding of the mechanism of the inflammatory response to a physical stimulus. ..
  12. Innovative Modeling of Puberty and Substance Use Risk
    Bin Huang; Fiscal Year: 2009
    ..It will also contribute to the statistical literature on modeling longitudinal pubertal maturational process and complex mediating mechanisms. ..
  13. Sjogren's model with anti-Ro/La and Salivary Pathology and Dysfunction
    R Hal Scofield; Fiscal Year: 2010
    ..Improved understanding of the disease at a fundamental level is possible through study of animal models. Such understanding may lead to improved recognition and treatment. ..
  14. The X chromosome in systemic lupus erythematosus
    R Hal Scofield; Fiscal Year: 2010
    ..This proposal will determine whether the presence of two X chromosomes is a risk factor for women and men with Klinefelter's syndrome (47,XXY). ..
  15. Innate Immune Response Genes and P. Gingivalis
    Jenny Ting; Fiscal Year: 2009
    ..4) Cell lines with reduced ASC will also be tested. Since ASC can overcome the negative regulatory function of Monarch-1 and CIAS, ASC may enhance immune response to Pg to contain the infection. ..
  16. M Tuberculosis and Host-Defense Mechanisms
    Jenny Ting; Fiscal Year: 2009
    ..Crucial experiments will be reproduced with MDR TB. If ASC alters host response to Mtb, future experiments will be planned to study an ASC-null mouse. ..
  17. A cellular key to the gastric inflammation-metaplasia-carcinoma sequence?
    Deborah Gumucio; Fiscal Year: 2008
    ..Moreover, if it is demonstrated that tumors indeed arise from pGPC, this will have enormous implications for the further study and future clinical management of gastric cancer. [unreadable] [unreadable] [unreadable]..
  18. REPRESSORS OF HUMAN AND GLOBIN GENE EXPRESSION
    Deborah Gumucio; Fiscal Year: 2001
    ..This should provide a valuable tool for the further dissection of the regulators of hemoglobin switching. ..
  19. MOLECULAR REGULATION OF CLASS II MHC GENES
    Jenny Ting; Fiscal Year: 2001
    ..These goals will further our comprehension of class II gene regulation at the molecular and biologic levels. ..
  20. Epidemiology of Recurrent Aphthous Stomatitis
    Lorena Baccaglini; Fiscal Year: 2007
    ..Understanding the cause of canker sores can lead to better treatments for patients affected by this condition. [unreadable] [unreadable] [unreadable]..
  21. Molecular Etiology of Familial Mediterranean Fever
    Deborah Gumucio; Fiscal Year: 2007
    Patients with the autosomal recessive disease, Familial Mediterranean fever (FMF), suffer periodic, upredictable attacks of fever associated with severe pain; the pain is localized most commonly in joints (arthritis), abdomen (peritonitis)..
  22. CONTROL OF THE GAMMA TO BETA GLOBIN SWITCH
    Deborah Gumucio; Fiscal Year: 2003
    ..This comparative functional analysis of primate globin genes in transgenic mice, combined with studies in extant primates will provide new insights into mechanisms of hemoglobin switching. ..
  23. Cordinate Control of Human HLA-D Region and II Genes
    Jenny Ting; Fiscal Year: 2005
    ..abstract_text> ..
  24. Genetics of Severe Systemic Lupus Erythematosus (SLE) defined by thrombocytopenia
    R Scofield; Fiscal Year: 2007
    ..Finally, Specific Aim 4 will assemble a new cohort of families multiplex for SLE so that linkages and associations as well as particular polvmorphisms can be prospectively confirmed. ..
  25. Role of Class II MHC Antigens in Neurologic Diseases
    Jenny Ting; Fiscal Year: 2005
    ..4. Identify genes that are activated upon class II MHC engagement. in a microglial-macrophage line by Affy metrix screening, and assess the status of these genes in the cuprizone model. ..
  26. Role of CIITA Isoforms in Graft Rejection
    Jenny Ting; Fiscal Year: 2006
    ..3) What are the biochemical and biophysical natures of these three isoforms? Can this information assist us in the design of small peptides that may block the function of CIITA, and therefore enhance the survival of allogeneic grafts?..
  27. Dialysis Access Consortium Clinical Trials
    LAURA DEMBER; Fiscal Year: 2006
    ....
  28. Plexin-A1: Regulation by CIITA and immunologic function
    Jenny Ting; Fiscal Year: 2007
    ..abstract_text> ..
  29. Examination of the role of LPIN2 variations in skin and bone inflammation
    Hatem El Shanti; Fiscal Year: 2007
    ..Understanding the mechanisms behind psoriasis and CRMO is very important for the development of appropriate therapy. [unreadable] [unreadable] [unreadable]..