Research Topics
Genomes and Genes | Raphaela Goldbach-ManskySummaryAffiliation: National Institutes of Health Country: USA Publications
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Publications
Diurnal secretion of growth hormone, cortisol, and dehydroepiandrosterone in pre- and perimenopausal women with active rheumatoid arthritis: a pilot case-control studyMarc R Blackman
Endocrine Section, Laboratory of Clinical Investigation, National Center for Complementary and Alternative Medicine, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA
Arthritis Res Ther 9:R73. 2007..Whether these changes contribute to rheumatoid cachexia remains to be determined. Trial registration number: NCT00034060...- Immunology in clinic review series; focus on autoinflammatory diseases: update on monogenic autoinflammatory diseases: the role of interleukin (IL)-1 and an emerging role for cytokines beyond IL-1R Goldbach-Mansky
Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Clin Exp Immunol 167:391-404. 2012.... 
New concepts in the treatment of rheumatoid arthritisRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Annu Rev Med 54:197-216. 2003..We review clinical evidence supporting these therapeutic approaches. Diagnostic and therapeutic challenges are highlighted, and a decision tree to guide treatment in patients with early or established RA is provided...- A pilot study to evaluate the safety and efficacy of the long-acting interleukin-1 inhibitor rilonacept (interleukin-1 Trap) in patients with familial cold autoinflammatory syndromeRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA
Arthritis Rheum 58:2432-42. 2008..This pilot study was conducted to assess the safety and efficacy of rilonacept (IL-1 Trap), a long-acting IL-1 receptor fusion protein, in patients with FCAS... - Comparison of Tripterygium wilfordii Hook F versus sulfasalazine in the treatment of rheumatoid arthritis: a randomized trialRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases and Clinical Center, National Institutes of Health, U S Department of Health and Human Services, Bethesda, Maryland 20892 0001, USA
Ann Intern Med 151:229-40, W49-51. 2009..Extracts of the medicinal plant Tripterygium wilfordii Hook F (TwHF) have been used in China for centuries to treat a spectrum of inflammatory diseases... - The evaluation of bone damage in rheumatoid arthritis with magnetic resonance imagingR Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
Clin Exp Rheumatol 21:S50-3. 2003.... - Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnessesRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
J Allergy Clin Immunol 124:1141-9; quiz 1150-1. 2009.... - Blocking interleukin-1 in rheumatic diseasesRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, Bethesda, Maryland 20892, USA
Ann N Y Acad Sci 1182:111-23. 2009.... - Current status of understanding the pathogenesis and management of patients with NOMID/CINCARaphaela Goldbach-Mansky
Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases at the National Institutes of Health, Building 10, Room 6D 47B, 10 Center Drive, Bethesda, MD 20892, USA
Curr Rheumatol Rep 13:123-31. 2011.... - Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibitionRaphaela Goldbach-Mansky
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
N Engl J Med 355:581-92. 2006..Many patients have mutations in the cold-induced autoinflammatory syndrome 1 (CIAS1) gene, encoding cryopyrin, a protein that regulates inflammation... - An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonistIvona Aksentijevich
National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
N Engl J Med 360:2426-37. 2009..We report a disorder caused by mutations of IL1RN, which encodes the interleukin-1-receptor antagonist, with prominent involvement of skin and bone... - The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin modelIvona Aksentijevich
Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892 1820, USA
Arthritis Rheum 56:1273-85. 2007..This study was undertaken to investigate the structural effect of disease-causing mutations on cryopyrin, in order to gain better understanding of the impact of disease-associated mutations on protein function... 
The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMPGeun Shik Lee
Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA
Nature 492:123-7. 2012..Taken together, these findings indicate that Ca(2+) and cAMP are two key molecular regulators of the NLRP3 inflammasome that have critical roles in the molecular pathogenesis of CAPS...- The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapiesRachel L Glaser
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health Building 10, Room 6N 216A, 10 Center Drive, Bethesda, MD 20892, USA
Curr Allergy Asthma Rep 8:288-98. 2008.... - The spectrum of autoinflammatory diseases: recent bench to bedside observationsJohn G Ryan
Genetics and Genomics Branch, Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
Curr Opin Rheumatol 20:66-75. 2008..This article focuses on recent progress in our understanding of autoinflammatory syndromes, and how insights into these conditions have triggered the exploration of the role of innate immunity in common rheumatologic diseases... - Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease treated with anakinra: a cohort study to determine three- and five-year outcomesCailin H Sibley
Translational Autoinflammatory Disease Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland
Arthritis Rheum 64:2375-86. 2012..However, the impact of long-term treatment has not been established. This study was undertaken to evaluate the long-term effect of anakinra on clinical and laboratory outcomes and safety in patients with NOMID... - Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic heterogeneityYin Liu
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA
Arthritis Rheum 64:895-907. 2012..We undertook this study to investigate the clinical phenotype, genetic cause, and immune dysregulation in 9 CANDLE syndrome patients... - Autoinflammatory disease reloaded: a clinical perspectiveDaniel L Kastner
Laboratory of Clinical Investigation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Cell 140:784-90. 2010..Recent advances offer new opportunities for therapeutic intervention and suggest that the definition of what constitutes an autoinflammatory disease should be reassessed... - Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signalsCailin Henderson
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Translational Autoinflammatory Disease Section, USA
Clin Immunol 135:210-22. 2010..The biologically active receptor for IL-1, shares signaling pathways with some pathogen recognition receptors, the Toll-like receptors (TLRs) which early on suggested an important role in innate immune function... - A recurrent rash with fever and arthropathySharon E Jacob
Dermatology Branch, Center for Cancer Research, National Cancer Institute, Bethesda, Maryland 20892-1908, USA
J Am Acad Dermatol 54:318-21. 2006 - TNF downmodulates the function of human CD4+CD25hi T-regulatory cellsXavier Valencia
Autoimmunity Branch, the Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases National Institute of Health NIAMS NIH, Bethesda, MD 20892, USA
Blood 108:253-61. 2006..Thus, TNF has a novel action in modulating autoimmunity, by inhibiting CD4+CD25+ Treg activity... - De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal-onset multisystem inflammatory disease (NOMID): a new member of the expanding family of pyrin-associated autoinflammatory diseasesIvona Aksentijevich
National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
Arthritis Rheum 46:3340-8. 2002.... - Arthropathy of neonatal onset multisystem inflammatory disease (NOMID/CINCA)Suvimol Chirathivat Hill
Diagnostic Radiology, Warren G Magnuson Clinical Center, National Institutes of Health, 10 Center Drive, Rm N242, Bethesda, MD 20892, USA
Pediatr Radiol 37:145-52. 2007..Approximately 60% of NOMID patients have prominent arthropathy, most commonly involving the knees, the cause of which remains poorly understood... - Periarticular bone findings in rheumatoid arthritis: T2-weighted versus contrast-enhanced T1-weighted MRILawrence Yao
Diagnostic Radiology Department, National Institutes of Health, 10 Center Drive, Room 1C640, Bethesda, MD 20892-1182, USA
AJR Am J Roentgenol 187:358-63. 2006..These MR techniques are equally predictive of frank, erosive disease that is evident on CT... - Monogenic autoinflammatory diseases: new insights into clinical aspects and pathogenesisCailin Henderson
Translational Autoinflammatory Disease Section, MSC 1560, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland, USA
Curr Opin Rheumatol 22:567-78. 2010..This article summarizes recent progress in the clinical aspects and understanding of the pathogenesis of this growing spectrum of diseases... - The anesthetic management of children with neonatal-onset multi-system inflammatory diseaseChristine F Lauro
Department of Anesthesia and Surgical Services, National Institutes of Health Clinical Center, National Institutes of Health, Bethesda, MD 20892 1512, USA
Anesth Analg 105:351-7. 2007..As little is known about the anesthetic considerations of the disease, we sought to identify the main features and respective anesthetic and perioperative implications of NOMID... - Pilot clinical trial of intravenous doxycycline versus placebo for rheumatoid arthritisStanley Pillemer
National Institute of Dental and Craniofacial Research, Bethesda, Maryland 20892, USA
J Rheumatol 30:41-3. 2003..However, as the proportion of responders was small, it is unlikely that potential efficacy of IV doxycycline would outweigh potential disadvantages of IV administration... - National Institutes of Health Center for Human Immunology Conference, September 2009Robert B Nussenblatt
Laboratory of Immunology, National Eye Institute, Maryland 20892, USA
Ann N Y Acad Sci 1200:E1-23. 2010..The human immunology meeting was held in the Clinical Center of the National Institutes of Health, Bethesda, Maryland, on September 3 and 4, 2009... - Protein kinase A regulates caspase-1 via Ets-1 in bone stromal cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitorsMadson Q Almeida
PDEGEN, Eunice Kennedy Shriver National Institute of Child Health and Human Development, National Institutes of Health, Bethesda, MD 20892, USA
Hum Mol Genet 20:165-75. 2011.... - Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockadeSilvia Stojanov
National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
Proc Natl Acad Sci U S A 108:7148-53. 2011..IL-1 inhibition may thus be beneficial for treatment of PFAPA attacks, with IP-10/CXCL10 serving as a potential biomarker... - Anaphylactic reaction to anakinra in a rheumatoid arthritis patient intolerant to multiple nonbiologic and biologic disease-modifying antirheumatic drugsDitina Desai
Care Improvement Plus of Maryland, Inc, XLHealth Corporation, The Warehouse at Camden Yards, Baltimore, MD, USA
Ann Pharmacother 43:967-72. 2009..To report a case of probable anaphylaxis due to anakinra in a patient with rheumatoid arthritis and multiple drug allergies... - Novel anti-filamin-A antibody detects a secreted variant of filamin-A in plasma from patients with breast carcinoma and high-grade astrocytomaOzge Alper
Alper Biotech, LLC, Rockville, Maryland, USA
Cancer Sci 100:1748-56. 2009..Additional novel cancer biomarkers have been identified and are being developed alongside Alper-p280 for use in diagnosis of breast carcinoma and high-grade astrocytoma, and for use in the evaluation of therapeutic responses... - Use of biologics in rheumatoid arthritis: where are we going?Frank Pucino
Howard University College of Pharmacy, Washington, DC 20059, USA
Am J Health Syst Pharm 63:S19-41. 2006..Biologic therapies that are currently under investigation in early- and late-phase clinical trials are summarized at the end of this report... - Treatment of patients with neonatal-onset multisystem inflammatory disease/chronic infantile neurologic, cutaneous, articular syndrome: comment on the article by Matsubara et alRaphaela Goldbach-Mansky
Arthritis Rheum 56:2099-101; author reply 2101-2. 2007 - Mutational analysis in neonatal-onset multisystem inflammatory disease: comment on the articles by Frenkel et al and Saito et alIvona Aksentijevich
Arthritis Rheum 54:2703-4; author reply 2704-5. 2006 - Magnetic resonance imaging in the evaluation of bone damage in rheumatoid arthritis: a more precise image or just a more expensive one?Raphaela Goldbach-Mansky
Arthritis Rheum 48:585-9. 2003 - Consequences of disease-causing mutations on lubricin protein synthesis, secretion, and post-translational processingDavid K Rhee
Department of Genetics and Center for Human Genetics, Case Western Reserve University School of Medicine and University Hospitals of Cleveland, Cleveland, Ohio 44106, USA
J Biol Chem 280:31325-32. 2005..This suggests that formation of an intrachain disulfide bond is required for SPC-mediated cleavage and that SPC-mediated cleavage is essential to protein function... - Low prevalence of antibodies to glucose-6-phosphate isomerase in patients with rheumatoid arthritis and a spectrum of other chronic autoimmune disordersIsao Matsumoto
Joslin Diabetes Center and Brigham and Women's Hospital, Harvard Medical School, Boston, Massachusetts 02215, USA
Arthritis Rheum 48:944-54. 2003..While the antibody-mediated mechanism at play in the mouse model may exemplify a generic mechanism for some forms of arthritis in humans, GPI itself does not appear to be a target common to the majority of RA patients...