Research Topics
Species | S StojanovSummaryAffiliation: National Institutes of Health Country: USA Publications
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Detail Information
Publications
Cytokine profile in PFAPA syndrome suggests continuous inflammation and reduced anti-inflammatory responseSilvia Stojanov
Department of Infectious Diseases and Immunology, Children s Hospital, University of Munich, Germany
Eur Cytokine Netw 17:90-7. 2006....
Familial autoinflammatory diseases: genetics, pathogenesis and treatmentSilvia Stojanov
Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Curr Opin Rheumatol 17:586-99. 2005..This review elucidates how recent advances have impacted diagnosis, pathogenesis, and treatment...
The tumour necrosis factor receptor-associated periodic syndrome: current conceptsSilvia Stojanov
Genetics and Genomics Branch, NIAMS, National Institutes of Health, Building 9, Room 1W111, 9 Memorial Drive, Bethesda, MD 20892 0908, USA
Expert Rev Mol Med 7:1-18. 2005..Synthetic anti-TNF agents provide a rational form of therapy for TRAPS, and have been shown to delay or indeed prevent development of systemic amyloidosis (AA type), a life-threatening complication in this condition...
Clinical and functional characterisation of a novel TNFRSF1A c.605T>A/V173D cleavage site mutation associated with tumour necrosis factor receptor-associated periodic fever syndrome (TRAPS), cardiovascular complications and excellent response to etanercepS Stojanov
Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Building 10, Room 9N210, 10 Center Drive, Bethesda, MD 20892, USA
Ann Rheum Dis 67:1292-8. 2008..To study the clinical outcome, treatment response, T-cell subsets and functional consequences of a novel tumour necrosis factor (TNF) receptor type 1 (TNFRSF1A) mutation affecting the receptor cleavage site...
Incidence and clinical features of hyperimmunoglobulinemia D and periodic fever syndrome (HIDS) and spectrum of mevalonate kinase (MVK) mutations in German childrenE Lainka
Department of Paediatric Rheumatology, Children s Hospital, University Duisburg Essen, Hufelandstr 55, 45147 Essen, Germany
Rheumatol Int 32:3253-60. 2012..The most frequent mutation was p.Val377Ile (81%, 13 out of 16). In Germany, the incidence of HIDS is very low with 0.39 per 10(6) person-years...
Familial Mediterranean fever in Germany: epidemiological, clinical, and genetic characteristics of a pediatric populationE Lainka
Department of Paediatric Rheumatology, Children s Hospital, University Duisburg Essen, Hufelandstr 55, 45122, Essen, Germany
Eur J Pediatr 171:1775-85. 2012..Twenty-five to 50 FMF patients ≤ 16 years are newly diagnosed per year. The disease is most commonly observed in individuals of Turkish ancestry...
Tumor necrosis factor receptor 1-associated periodic syndrome without fever: cytokine profile before and during etanercept treatmentH Morbach
Section of pediatric rheumatology and osteology, Children s Hospital, University of Wurzburg, Josef Schneider Str 2, 97080 Wurzburg, Germany
Rheumatol Int 30:207-12. 2009..Hereditary fever syndromes have to be considered in case of chronic unexplained inflammation even if fever is no presenting symptom...
Analysis of cryopyrin-associated periodic syndromes (CAPS) in German children: epidemiological, clinical and genetic characteristicsE Lainka
Department of Paediatric Rheumatology, Children s Hospital, University Duisburg Essen, Hufelandstrasse 55, Essen, Germany
Klin Padiatr 222:356-61. 2010..The aims were to determine the incidence of CAPS and the spectrum of mutations in the NLRP3 (formerly= CIAS1) gene and to describe the clinical manifestations...
The hereditary autoinflammatory syndromesPuja Chitkara
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Center Drive, Bethesda, MD, USA
Pediatr Infect Dis J 26:353-4. 2007
Molecular analysis of the MVK and TNFRSF1A genes in patients with a clinical presentation typical of the hyperimmunoglobulinemia D with periodic fever syndrome: a low-penetrance TNFRSF1A variant in a heterozygous MVK carrier possibly influences the phenotSilvia Stojanov
Department of Infectious Diseases Immunology, Children s Hospital, University of Munich, Munich, Germany
Arthritis Rheum 50:1951-8. 2004....
A novel CIAS1 mutation and plasma/cerebrospinal fluid cytokine profile in a German patient with neonatal-onset multisystem inflammatory disease responsive to methotrexate therapySilvia Stojanov
Department of Infectious Diseases and Immunology, Children s Hospital, University of Munich, Munich, Germany
Pediatrics 114:e124-7. 2004..CSF cytokine levels decreased to normal under corticosteroid and intrathecal methotrexate therapy. When the boy reached the age of 5.5 years, treatment was stopped, and he has remained relapse-free...
A new low-penetrance TNFRSF1A mutation causing atypical periodic feverAnita Rack
Department of Infectious Diseases and Immunology, Children's Hospital, Munich, Germany
Pediatr Int 48:169-71. 2006
Identification of a novel mevalonate kinase gene mutation in combination with the common MVK V377I substitution and the low-penetrance TNFRSF1A R92Q mutationFlorian Hoffmann
Department of Infectious Diseases and Immunology, Children s Hospital, University of Munich, Germany
Eur J Hum Genet 13:510-2. 2005..The girl was also heterozygous for the TNFRSF1A R92Q low-penetrance mutation, which may have significant proinflammatory effects. However, at the time of presentation, the patient had no TRAPS-associated symptoms...
Colchicine use in children and adolescents with familial Mediterranean fever: literature review and consensus statementTilmann Kallinich
Department of Pediatric Pneumology and Immunology, Charite Universitatsmedizin Berlin, Campus Virchow Klinikum, Augustenburger Platz 1, 13353 Berlin, Germany
Pediatrics 119:e474-83. 2007..On the basis of this analysis, a consensus statement on the application of colchicine in children and adolescents with familial Mediterranean fever was developed by caregivers from Germany, Austria, and Turkey...
