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Newsletter 2013

Dezember

Familial Mediterranean fever (FMF) with proteinuria: clinical features, histology, predictors, and prognosis in a cohort of 25 patients.
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Treating inflammation by blocking interleukin-1 in humans.
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
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[Self-medication to treat pain in attacks of familial Mediterranean fever: aiming to find a new approach to pain management].
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Efficacy and safety of canakinumab therapy in paediatric patients with cryopyrin-associated periodic syndrome: a single-centre, real-world experience.
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The expanding spectrum of low-penetrance TNFRSF1A gene variants in adults presenting with recurrent inflammatory attacks: Clinical manifestations and long-term follow-up.
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Adult Still's disease associated with ovarian cancer: case report.
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Adult Onset Still's Disease Presenting with Acute Respiratory Distress Syndrome: Case Report and Review of the Literature.
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Successful Use of Higher-Dose Etanercept for Multirefractory Systemic Flare of Adult-Onset Still's Disease with Liver Failure with No Response to Tocilizumab Therapy.
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Clinical predictors in chronic articular adult-onset Still disease. Comment on the article by Ichido et al.
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Long-term efficacy and safety of Anakinra in a patient with liver transplant due to Adult onset Still's Disease.
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Evidence in support of the validity of the TNF brake hypothesis.
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Effectiveness of first line use of recombinant IL-1RA treatment in steroid naïve systemic juvenile idiopathic arthritis: Results of a prospective cohort study.
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Tocilizumab: a review of its use in the treatment of juvenile idiopathic arthritis.
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Rheumatoid Arthritis and Familial Mediterranean Fever or Sacroiliitis Accompanied by FMF.
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Amyloidosis and its related factors in Turkish patients with familial Mediterranean fever: a multicentre study.
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Ophthalmic manifestations in familial Mediterranean fever: a case series of 6 patients.
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[Self-medication to treat pain in attacks of familial Mediterranean fever: aiming to find a new approach to pain management].
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Do neutrophil gelatinase-associated lipocalin and interleukin-18 predict renal dysfunction in patients with familial Mediterranean fever and amyloidosis?
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Long-term outcome of renal transplantation in patients with familial Mediterranean fever amyloidosis: a single-center experience.
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The kidney in familial Mediterranean fever.
Abstract

Secondary amyloidosis in a patient carrying mutations in the familial Mediterranean fever (FMF) and tumour necrosis factor receptor-1 syndrome (TRAPS) genes.
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Novel double heterozygous mutations in MEFV and NLRP3 genes in a patient with familial Mediterranean fever.
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Colonic lymphoid nodular hyperplasia in childhood: causes of familial Mediterranean fever need extra attention.
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Determination of hearing levels in patients with Familial Mediterranean Fever.
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Muckle-Wells treatment with anakinra.
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Somatic NLRP3 mosaicism in Muckle-Wells syndrome. A genetic mechanism shared by different phenotypes of cryopyrin-associated periodic syndromes.
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Canakinumab in patients with cryopyrin-associated periodic syndrome: an update for clinicians.
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Muckle-Wells syndrome without mutation in exon 3 of the NLRP3 gene, identified by evidence of excessive monocyte production of functional interleukin 1β and rapid response to anakinra.
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November

Autoinflammatory bone diseases.
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A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.
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TCRγ rearrangement and Epstein- Barr virus are detected both in lymphadenopathy of adult-onset Still's disease and in accompanying peripheral T-cell lymphoma.
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Clinical value of 18F-fluoro-dexoxyglucose positron emission tomography/computed tomography in patients with adult-onset Still's disease: A seven-case series and review of the literature.
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Natural killer cell activity and frequency of killer cell immunoglobulin-like receptors in children with different forms of juvenile idiopathic arthritis.
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Systemic juvenile idiopathic arthritis: a review.
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Thyroid autoimmunity in patients with Familial Mediterranean Fever: preliminary results.
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Is bullous skin lesion a risk factor for renal amyloidosis in patients with familial mediterranean fever?
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Cluster of patients with Familial Mediterranean fever and heterozygous carriers of mutations in MEFV gene in the Czech Republic.
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Relationship Between Response to Colchicine Treatment and MDR1 Polymorphism in Familial Mediterranean Fever Patients.
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A clinical guide to autoinflammatory diseases: familial Mediterranean fever and next-of-kin.
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Inhibition of the NF-κB pathway as a candidate therapeutic strategy for cryopyrin-associated periodic syndrome.
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Oktober

How should we approach classification of autoinflammatory diseases?
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First clinical description of an infant with interleukin-36-receptor antagonist deficiency successfully treated with anakinra.
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Relationship between genetic mutation variations and acute-phase reactants in the attack-free period of children diagnosed with familial Mediterranean fever.
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A novel mutation in the CIAS1/NLRP3 gene associated with an unexpected phenotype of CAPS.
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Genotype-phenotype and genotype-origin correlations in children with mediterranean fever in Germany - an AID-net study.
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The Central Role of Anti-IL-1 Blockade in the Treatment of Monogenic and Multi-Factorial Autoinflammatory Diseases.
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Working the endless puzzle of hereditary autoinflammatory disorders.
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Pulmonary Necrotizing Granulomas in a patient with familial mediterranean fever.
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Functional gastrointestinal disorders in patients with familial Mediterranean fever.
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Erdheim-Chester disease and Schnitzler syndrome: so near, and yet so far.
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Schnitzler syndrome: an under-diagnosed clinical entity.
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A case of bilateral trochleitis in adult-onset Still's disease.
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Interleukin-18 as an efficient marker for remission and follow-up in patients with inactive adult-onset Still's disease.
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Clinical manifestations of adult-onset still's disease presenting with erosive arthritis: Association with low levels of ferritin and IL-18.
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Subacute liver failure following anakinra treatment for adult-onset Still disease.
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Demyelinating encephalopathy in adult onset Still's disease: case report and review of the literatures.
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Effect of Tocilizumab on growth impairment in systemic juvenile idiopathic arthritis with long-term corticosteroid therapy.
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Non-systemic juvenile idiopathic arthritis outcome after reaching clinical remission with anti-TNF-α therapy: a clinical practice observational study of patients who discontinued treatment.
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2013 update of the 2011 American College of Rheumatology recommendations for the treatment of juvenile idiopathic arthritis: recommendations for the medical therapy of children with systemic juvenile idiopathic arthritis and tuberculosis screening among children receiving biologic medications.
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Juvenile idiopathic arthritis-associated uveitis: clinical features and complications, risk factors for severe course, and visual outcome.
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Glucocorticoids in the management of systemic juvenile idiopathic arthritis.
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Functional gastrointestinal disorders in patients with familial Mediterranean fever.
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Spectrum of mutations in the familial Mediterranean fever gene (MEFV) in Turkish patients of the Central Anatolia region: a comparison of two mutation detection system.
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Monogenic autoinflammatory syndromes: state of the art on genetic, clinical, and therapeutic issues.
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Pregnancy outcome of five patients with renal amyloidosis regarding familial Mediterranean fever.
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Challenges in diagnosing Muckle-Wells syndrome: Identifying two distinct phenotypes.
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September

Vaccinations in juvenile chronic inflammatory diseases: an update.
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Autoinflammatory bone disorders: update on immunologic abnormalities and clues about possible triggers.
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[Secondary immunodeficiency in rheumatological diseases].
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Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry.
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First report of circulating microRNAs in tumour necrosis factor receptor-associated periodic syndrome (TRAPS).
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Thorough investigation of a canine autoinflammatory disease (AID) confirms one main risk locus and suggests a modifier locus for amyloidosis.
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Incidence of hereditary amyloidosis and autoinflammatory diseases in Sweden: endemic and imported diseases.
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A Case of Adult-Onset Still's Disease Presenting with Urticated Plaques and Acute Myopericarditis.
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Pure Red Cell Aplasia with Adult Onset Still's Disease.
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Efficacy of Tocilizumab in refractory Adult-onset Still's Disease; Report of 2 Cases.
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Clinical features and prognosis in 82 patients with adult-onset Still's disease.
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A patient with a phenotype of adult-onset still disease, but a genotype typical of cryopyrin-associated periodic fever syndrome.
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Occult macrophage activation syndrome in systemic-onset juvenile idiopathic arthritic syndrome--a case report.
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Clinical patterns of juvenile idiopathic arthritis in Zambia.
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An important complication of a child with juvenile idiopathic arthritis: macrophage activation syndrome.
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Vaccinations in juvenile chronic inflammatory diseases: an update.
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Decreased cartilage thickness in juvenile idiopathic arthritis assessed by ultrasonography.
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Long-term safety and efficacy of rilonacept in patients with systemic juvenile idiopathic arthritis.
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Validation of the Auto-Inflammatory Diseases Activity Index (AIDAI) for hereditary recurrent fever syndromes.
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Methodological challenges in monitoring new treatments for rare diseases: lessons from the cryopyrin-associated periodic syndrome registry.
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August

Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation.
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Serum level of interleukin-33 and soluble ST2 and their association with disease activity in patients with Behcet's disease.
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The phenotype of TNF receptor-associated autoinflammatory syndrome (TRAPS) at presentation: a series of 158 cases from the Eurofever/EUROTRAPS international registry.
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Obvious optic disc swelling in a patient with cryopyrin-associated periodic syndrome.
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Efficacy of tocilizumab for interstitial lung disease in an undifferentiated autoinflammatory disorder partially responsive to anakinra.
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S100A8 and S100A9 induce cytokine expression and regulate the NLRP3 inflammasome via ROS-dependent activation of NF-κB(1.).
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The hyperferritinemic syndrome: macrophage activation syndrome, Still's disease, septic shock and catastrophic antiphospholipid syndrome.
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Lipid profile in adult patients with idiopathic juvenile arthritis.
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Evaluation of anti-citrullinated type II collagen and anti-citrullinated vimentin antibodies in patients with juvenile idiopathic arthritis.
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Anakinra pharmacokinetics in children and adolescents with systemic-onset juvenile idiopathic arthritis and autoinflammatory syndromes.
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Atypical presentation of a cryopyrin-associated periodic syndrome, revealing a novel NLRP3 mutation.
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Corneal response to canakinumab in cryopyrin associated periodic fever syndrome.
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Juli

A taste of periodic fever syndromes.
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Introduction to autoinflammatory syndromes and diseases.
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Autoinflammatory diseases in dermatology: CAPS, TRAPS, HIDS, FMF, Blau, CANDLE.
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Autoinflammatory pustular neutrophilic diseases.
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What do autoinflammatory syndromes teach about common cutaneous diseases such as pyoderma gangrenosum? A commentary.
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Psoriasis as autoinflammatory disease.
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Autoinflammatory syndromes.
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Autoinflammatory diseases in pediatrics.
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Type 2 diabetes mellitus: a metabolic autoinflammatory disease.
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Autoinflammatory diseases and syndromes in dermatology. Preface.
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Controlling inflammation: contemporary treatments for autoinflammatory diseases and syndromes.
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The risk of familial Mediterranean fever in MEFV heterozygotes: a statistical approach.
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Biological treatments: new weapons in the management of monogenic autoinflammatory disorders.
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From the Mediterranean to the sea of Japan: the transcontinental odyssey of autoinflammatory diseases.
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Involvement of the same TNFR1 residue in mendelian and multifactorial inflammatory disorders.
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Bloody Diarrhea as a Presentation Manifestation of Familial Mediterranean Fever in a Patient with Compound Heterozygote Mutations of the MEFV Gene.
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Behçet's Disease: Autoimmune or Autoinflammatory?
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Successful remission induced by plasma exchange combined with leukocytapheresis against refractory systemic juvenile idiopathic arthritis.
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Clinical features and perforin A91V gene analysis in 31 patients with macrophage activation syndrome and systemic juvenile idiopathic arthritis in China.
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Follistatin-like protein 1 and the ferritin/erythrocyte sedimentation rate ratio are potential biomarkers for dysregulated gene expression and macrophage activation syndrome in systemic juvenile idiopathic arthritis.
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Autoinflammatory diseases in pediatrics.
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Innate immunity functional gene polymorphisms and gout susceptibility.
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Serum soluble fas ligand levels in familial Mediterranean fever.
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Juni

Juvenile rheumatoid arthritis.
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Expanding spectrum of TNFRSF1A gene mutations among patients with idiopathic recurrent acute pericarditis.
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Autoinflammatory diseases in pediatrics.
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Practical algorithm for diagnosing patients with recurrent wheals or angioedema.
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Pyogenic Arthritis, Pyoderma Gangrenosum, Acne, and Hidradenitis Suppurativa (PAPASH): A New Autoinflammatory Syndrome Associated With a Novel Mutation of the PSTPIP1 Gene.
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RIP1-driven autoinflammation targets IL-1α independently of inflammasomes and RIP3.
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Bridging the gap between autoinflammation and autoimmunity.
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Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
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Erysipelas-like erythema of familial Mediterranean fever syndrome: a case report with emphasis on histopathologic diagnostic clues.
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Phagocyte-derived S100 proteins in autoinflammation: Putative role in pathogenesis and usefulness as biomarkers.
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Activated phenotype of circulating neutrophils in familial Mediterranean fever.
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Leucopenia and Familial Mediterranean Fever.
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Mean platelet volume and amyloidosis in patients with familial Mediterranean fever.
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Evidence-based recommendations for the practical management of Familial Mediterranean Fever.
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Renal amyloidosis due to familial mediterranean fever misdiagnosed.
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Monogenic autoinflammatory diseases: Concept and clinical manifestations.
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Autoinflammation: From monogenic syndromes to common skin diseases.
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Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis.
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Evaluation of the mean platelet volume in secondary amyloidosis due to familial Mediterranean fever.
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First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.
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Review for disease of the year: epidemiology of juvenile idiopathic arthritis and its associated uveitis: the probable risk factors.
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Tocilizumab: A novel humanized anti-interleukin 6 (IL-6) receptor antibody for the treatment of patients with non-RA systemic, inflammatory rheumatic diseases.
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Long-Term Safety and Efficacy of Rilonacept in Patients with Systemic Juvenile Idiopathic Arthritis (sJIA).
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Mai

Pigmentary hypertrichosis and non-autoimmune insulin-dependent diabetes mellitus (PHID) syndrome is associated with severe chronic inflammation and cardiomyopathy, and represents a new monogenic autoinflammatory syndrome.
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Brain stem infarction associated with familial Mediterranean fever and central nervous system vasculitis.
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A case of hyperimmunoglobulinemia d syndrome successfully treated with canakinumab.
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Efficacy and safety of canakinumab in urticarial vasculitis: An open-label study.
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Association between MEFV gene mutations and recurrent aphthous stomatitis in a cohort of Turkish patients.
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Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behcet disease.
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Treatment of Muckle-Wells syndrome: analysis of two IL-1-blocking regimens.
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Sudden bilateral sensorineural hearing loss associated with urticarial vasculitis.
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Targeting inflammasomes in rheumatic diseases.
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Cryopyrin-associated Periodic Syndromes and the Eye.
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[Genetic fever syndromes. Hereditary recurrent (periodic) fever syndromes].
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Cardiovascular risk in pediatric-onset rheumatological diseases.
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Follistatin-like Protein 1 and the Ferritin/Erythrocyte Sedimentation Rate Ratio Are Potential Biomarkers for Dysregulated Gene Expression and Macrophage Activation Syndrome in Systemic Juvenile Idiopathic Arthritis.
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Methotrexate Therapy May Prevent the Onset of Uveitis in Juvenile Idiopathic Arthritis.
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AA Amyloidosis Associated With Systemic-Onset Juvenile Idiopathic Arthritis.
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Evaluation of the association between Hispanic ethnicity and disease activity and severity in a large cohort of patients with juvenile idiopathic arthritis.
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Ultraviolet radiation exposure is associated with clinical and autoantibody phenotypes in Juvenile Myositis.
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Juvenile idiopathic arthritis in the new world of biologics.
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April

Linkage of bacterial colonization of skin and the urticaria-like rash of NLRP3-mediated autoinflammatory syndromes through mast cell-derived TNF-α
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Neutrophilic dermatoses and inflammatory bowel diseases.
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Mutation in the SLC29A3 gene: a new cause of a monogenic, autoinflammatory condition.
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Autoimmunity and Autoinflammation: Cardiovascular Drug Targets and Design.
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Assesment life quality of familial Mediterranean fever patients by short form-36 and its relationship with disease parameters.
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Muckle-Wells syndrome: individualized, reflare-guided dosing of the orphan drug canakinumab.
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[Genetic fever syndromes : Hereditary recurrent (periodic) fever syndromes.]
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[Interleukin-1-mediated diseases].
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Complement alternative pathway activation in the course of thrombotic microangiopathy associated with adult-onset Still's disease.
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Autoinflammatory gene polymorphisms and susceptibility to UK juvenile idiopathic arthritis.
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TNF Inhibition for Ophthalmic Indications: Current Status and Outlook.
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Canakinumab in pediatric rheumatic diseases.
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Latent viral infections in young patients with inflammatory diseases treated with biological agents: Prevalence of JC virus genotype 2.
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März

Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
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Erysipelas-like erythema of familial Mediterranean fever syndrome: a case report with emphasis on histopathologic diagnostic clues.
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Effect of in vitro and in vivo anakinra on cytokines production in schnitzler syndrome.
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Schnitzler's syndrome: diagnosis, treatment, and follow-up.
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Inheritance of autoinflammatory diseases: shifting paradigms and nomenclature.
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Relationship of paraoxonase-1, malondialdehyde and mean platelet volume with markers of atherosclerosis in familial Mediterranean fever: an observational study.
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Familial Mediterranean fever in heterozygotes: Are we able to accurately diagnose the disease in very young children?
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Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype.
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MEFV mutations affecting pyrin amino acid 577 cause autosomal dominant autoinflammatory disease.
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Mortality risk factors associated with familial Mediterranean fever among a cohort of 1.25 million adolescents.
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Thyroid and renal amyloidosis secondary to cryopyrin associated periodic syndrome (Muckle-Wells syndrome) (Mutation NLRP3).
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Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype.
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First report of vertical transmission of a somatic NLRP3 mutation in cryopyrin-associated periodic syndromes.
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Hearing loss in Muckle-Wells syndrome.
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Increased NLRP3-dependent interleukin 1β secretion in patients with familial Mediterranean fever: correlation with MEFV genotype.
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Tocilizumab for systemic juvenile idiopathic arthritis.
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Clinical pharmacology of tocilizumab for the treatment of systemic juvenile idiopathic arthritis.
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Targeting interleukin-6 in rheumatoid arthritis.
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Unexplained recurrent fever: when is autoinflammation the explanation?
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Cholesterol crystals and inflammation.
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What is the Background Incidence of Malignancy in Children with Rheumatic Disease?
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Februar

The schedule of administration of canakinumab in cryopyrin associated periodic syndrome is driven by the phenotype severity rather than the age.
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Clinical characteristics in subjects with NLRP3 V198M diagnosed at a single UK center and a review of the literature.
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Impact of Microbes on Autoimmune Diseases.
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Increased enthesopathy in patients with familial mediterranean Fever: evaluation with a new sonographic enthesitis index.
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Inflammation in Mice Ectopically Expressing Human Pyogenic Arthritis, Pyoderma Gangrenosum, and Acne (PAPA) Syndrome-associated PSTPIP1 A230T Mutant Proteins.
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Interrelation between interleukin-1 (IL-1), IL-6 and body fat regulating circuits of the hypothalamic arcuate nucleus.
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Reversal of Severe Hepatitis with Infliximab in Adult-onset Still's Disease.
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Safety and efficacy of canakinumab in Japanese patients with phenotypes of cryopyrin-associated periodic syndrome as established in the first open-label, phase-3 pivotal study (24-week results).
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The pathogenesis of neonatal autoimmune and autoinflammatory diseases: A comprehensive review.
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The imbalance of IL-18/IL-18BP in patients with systemic juvenile idiopathic arthritis.
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Radiological Peripheral Involvement in a Cohort of Patients with Polyarticular Juvenile Idiopathic Arthritis at Adulthood.
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Psychological Intervention for Adolescents with Juvenile Idiopathic Arthritis: For Whom and When?
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Disease Course, Outcome, and Predictors of Outcome in a Population-based Juvenile Chronic Arthritis Cohort Followed for 17 Years.
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Autoimmune endocrine disorders and coeliac disease in children and adolescents with juvenile idiopathic arthritis and rheumatic fever.
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Folate usage in MTX-treated juvenile idiopathic arthritis (JIA) patients is inconsistent and highly variable.
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Body experiences, emotional competence, and psychosocial functioning in juvenile idiopathic arthritis.
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Pregnancy outcomes in women with juvenile idiopathic arthritis: a population-based study.
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The diagnostic accuracy of unenhanced MRI in the assessment of joint abnormalities in juvenile idiopathic arthritis.
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Bone status in adults with early-onset juvenile idiopathic arthritis following 1-year anti-TNFα therapy and discontinuation of glucocorticoids.
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Januar

Intra-articular steroid injection for temporomandibular joint arthritis in juvenile idiopathic arthritis: A systematic review on efficacy and safety.
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Naturally occurring genetic variants of human caspase-1 differ considerably in structure and the ability to activate interleukin-1β.
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Lack of an effect of CYP3A4 and MDR1 gene polymorphisms on colchicine pharmacogenetics in the treatment of Familial Mediterranean fever.
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Serum 17-OH progesterone and free testosterone levels in women patients with Familial Mediterranean Fever: a pivotal study.
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Cystatin C in serum as an early marker of renal involvement in Familial Mediterranean Fever patients.
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Management of familial Mediterranean fever by colchicine does not normalize the altered profile of microbial long chain fatty acids in the human metabolome.
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Hypoadrenal syndrome in a patient with amyloidosis secondary to familial mediterranean fever.
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Association of MEFV Gene Mutations With Rheumatoid Factor Levels in Patients With Rheumatoid Arthritis.
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Evaluation of circulating endothelial biomarkers in familial Mediterranean fever.
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High prevalence of spondyloarthritis and ankylosing spondylitis among familial Mediterranean fever patients and their first-degree relatives: further evidence for the connection.
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Long chain fatty acid (Lcfa) abnormalities in hyper Igd syndrome (Hids) and familial Mediterranean fever (Fmf): New insight into heritable periodic fevers.
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Enthesopathy in patients with familial Mediterranean fever: increased prevalence in M694 V variant.
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Rare MEFV variants are not associated with risk to develop multiple sclerosis and severity of disease.
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IL-1β Biological Treatment of Familial Mediterranean Fever.
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Evaluation of hearing in patients with familial Mediterranean fever.
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Association of Missense Mutations of Mediterranean Fever (MEFV) Gene with Multiple Sclerosis in Turkish Population.
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Advances in basic and clinical immunology in 2012.
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