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PrintRaphaela Goldbach-Mansky, M.D., M.H.S
Adjunct Investigator, Medical Genetics Branch, National Human Genome Research Institute
Investigator, Pediatric Translational Research Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseseases (NIAMS)
Investigator and Acting Chief, Translational Autoinflammatory Disease Section, NIAMS
Selected Publications
Goldbach-Mansky R, Lee J, McCoy A, Hoxworth J, Yarboro C, Smolen J, Steiner G, Rosen A, Zhang C, Menard H, Zhou Z, Palusuo T, van Venrooj W, Wilder R, Klippel J, Schumacher HR, El-Gabalawy HS. Autoantibodies in patients with synovitis of recent onset; diagnostic and prognostic value. Arthritis Res, 2 (3): 236-243. 2000. [PubMed]
Aksentijevich I, Nowak M, Mallah M, Chae J J, Watford WT, Hofmann SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE, Rosenzweig S, Komarow H, Shoham NG, Wood G, Jones J, Mangra N, Carrero H, Adams BS, Moore TL, Schikler K, Hoffman H, Lovell DJ, Lipnick R, Barron K, O'Shea JJ, Kastner DL and Goldbach-Mansky R. 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 diseases. Arthritis Rheum, 46(12):3340-8. 2002. [PubMed]
Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zalewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak S, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge R, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan W, Warren R, Horn W, Cole JL, Paul S, Hawkins P, Pham TH, Snyder C, Wesley R, Hoffmann SC, Butman JA, Holland SM, and Kastner DL. Neonatal Onset Multisystem Inflammatory Disease — A Disorder of Interleukin 1 Signaling Responsive to Anakinra. NEJM, Aug 10; 355(6):581-92. 2006. [PubMed]
Hill S, Namde M, Dwyer A, Poznanski A, Canna S, Goldbach-Mansky R. Arthropathy of NOMID. Pediatr Radiol, 37(2):145-52. 2007. [PubMed]
Aksentijevich I, D Putnam C, Remmers EF, Mueller JL, Le J, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: Novel CIAS1 Mutations in North American Patients and a Now Cryopyrin Model. Arthritis Rheum., 56(4):1273-85. 2007. [PubMed]
Goldbach-Mansky R, Shroff S, Wilson M, Snyder C, Barham B, Pham TH, Wesley R, Papadopoulos J, Weinstein S, Mellis S, Kastner DL. A pilot study to evaluate the safety and efficacy of the long-acting IL-1 inhibitor, rilonacept (IL-1 Trap) in patients with familial cold autoinflammatory syndrome (FCAS). Arthritis Rheum, 58(8):2432-42. 2008. [PubMed]
Glaser R, Goldbach-Mansky R. The spectrum of monogenic autoinflammatory syndromes: understanding disease mechanisms and use of targeted therapies. Curr Allergy Asthma Rep, 7(4):288-98. 2008. [PubMed]
Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgard U, Edward CW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone D, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, M.D., van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Ph.D., Remmers EF, Kastner DL, and Goldbach-Mansky R. Deficiency of the Interleukin-1 Receptor Antagonist (DIRA) — A Systemic Autoinflammatory Disease of Skin and Bone. NEJM, 360:2426-37. 2009. [PubMed]
Goldbach-Mansky R, Wilson M, Fleischman R, Olsen N, Silverfield J, Kempf P, Kivitz A, Sherrer Y, Pucino F, Csako G, Costello R, Pham TH, Snyder C, van der Heijde D, Tao X, Wesley R, Lipsky PE. Efficacy and Safety of the Chinese Herbal Remedy, Tripterygium wilfordii Hook F in the treatment of rheumatoid arthritis — a multi-center, double blind randomized active comparator study. Ann Intern. Med, 151:229-40, W49-51. 2009. [PubMed]
Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell. Mar, 140(6):784-90. 2010. [PubMed]
Henderson C, Goldbach-Mansky R. Monogenic IL-1 mediated autoinflammatory and immunodeficiency syndromes: finding the right balance in response to danger signals. Clin Immunol, 135(2):210-22. 2010. [PubMed]
Almeida MQ, Tsang KM, Wang X, Cheadle C, Watkins T, Grivel JC, Nesterova M, Carney JA, Goldbach-Mansky R, & Stratakis CA. Protein kinase A regulates caspase-1 via Ets1 in bone stem cell-derived lesions: a link between cyclic AMP and pro-inflammatory pathways in osteoblast progenitors. Hum Mol Genet, 20(1):165-75. 2011. [PubMed]
Tanaka N, Izawa K, Saito MK, Sakuma M, Oshima K, Ohara O, Nishikomori R, Morimoto T, Kambe N, Goldbach-Mansky R, Aksentijevich I, de Saint Basile G, Neven B, van Gijn M, Frenkel J, Arostegui JI, Yagüe J, Merino R, Ibañez M, Pontillo A, Takada H, Imagawa T, Kawai T, Yasumi T, Nakahata T, Heike T. High incidence of NLRP3 somatic mosaicism in chronic infantile neurological cutaneous and articular syndrome patients: The results of an international multicenter collaborative study. Arthritis Rheum, 63(11):3625-32. 2011. [PubMed]
Posted: February 22, 2012
