Goldbach-Mansky, Raphaela
Goldbach-Mansky, Raphaela
Chief, Translational Autoinflammatory Diseases Section, NIAID, NIH
Verified email at - Homepage
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TNF downmodulates the function of human CD4+ CD25hi T-regulatory cells
X Valencia, G Stephens, R Goldbach-Mansky, M Wilson, EM Shevach, ...
Blood 108 (1), 253-261, 2006
Neonatal-onset multisystem inflammatory disease responsive to interleukin-1β inhibition
R Goldbach-Mansky, NJ Dailey, SW Canna, A Gelabert, J Jones, BI Rubin, ...
New England Journal of Medicine 355 (6), 581-592, 2006
An autoinflammatory disease with deficiency of the interleukin-1–receptor antagonist
I Aksentijevich, SL Masters, PJ Ferguson, P Dancey, J Frenkel, ...
New England Journal of Medicine 360 (23), 2426-2437, 2009
Activated STING in a vascular and pulmonary syndrome
Y Liu, AA Jesus, B Marrero, D Yang, SE Ramsey, ...
New England Journal of Medicine 371 (6), 507-518, 2014
De novo CIAS1 mutations, cytokine activation, and evidence for genetic heterogeneity in patients with neonatal‐onset multisystem inflammatory disease (NOMID …
I Aksentijevich, M Nowak, M Mallah, JJ Chae, WT Watford, SR Hofmann, ...
Arthritis & Rheumatism 46 (12), 3340-3348, 2002
The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP
GS Lee, N Subramanian, AI Kim, I Aksentijevich, R Goldbach-Mansky, ...
Nature 492 (7427), 123-127, 2012
Autoantibodies against type I IFNs in patients with life-threatening COVID-19
P Bastard, LB Rosen, Q Zhang, E Michailidis, HH Hoffmann, Y Zhang, ...
Science 370 (6515), 2020
Early-onset stroke and vasculopathy associated with mutations in ADA2
Q Zhou, D Yang, AK Ombrello, AV Zavialov, C Toro, AV Zavialov, ...
New England Journal of Medicine 370 (10), 911-920, 2014
Rheumatoid arthritis associated autoantibodies in patients with synovitis of recent onset
R Goldbach-Mansky, J Lee, A McCoy, J Hoxworth, C Yarboro, JS Smolen, ...
Arthritis Research & Therapy 2 (3), 1-8, 2000
An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome
SW Canna, AA de Jesus, S Gouni, SR Brooks, B Marrero, Y Liu, ...
Nature genetics 46 (10), 1140-1146, 2014
Autoinflammatory disease reloaded: a clinical perspective
DL Kastner, I Aksentijevich, R Goldbach-Mansky
Cell 140 (6), 784-790, 2010
The tumor-necrosis-factor receptor–associated periodic syndrome: new mutations in TNFRSF1A, ancestral origins, genotype-phenotype studies, and evidence for further genetic …
I Aksentijevich, J Galon, M Soares, E Mansfield, K Hull, HH Oh, ...
The American Journal of Human Genetics 69 (2), 301-314, 2001
The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
I Aksentijevich, C D. Putnam, EF Remmers, JL Mueller, J Le, RD Kolodner, ...
Arthritis & Rheumatism 56 (4), 1273-1285, 2007
PSORS2 is due to mutations in CARD14
CT Jordan, L Cao, EDO Roberson, KC Pierson, CF Yang, CE Joyce, ...
The American Journal of Human Genetics 90 (5), 784-795, 2012
IL-1 family nomenclature
C Dinarello, W Arend, J Sims, D Smith, H Blumberg, L O'Neill, ...
Nature immunology 11 (11), 973-973, 2010
Rare and common variants in CARD14, encoding an epidermal regulator of NF-kappaB, in psoriasis
CT Jordan, L Cao, EDO Roberson, S Duan, CA Helms, RP Nair, KC Duffin, ...
The American Journal of Human Genetics 90 (5), 796-808, 2012
Mutations in proteasome subunit β type 8 cause chronic atypical neutrophilic dermatosis with lipodystrophy and elevated temperature with evidence of genetic and phenotypic …
Y Liu, Y Ramot, A Torrelo, AS Paller, N Si, S Babay, PW Kim, A Sheikh, ...
Arthritis & Rheumatism 64 (3), 895-907, 2012
IL-1 blockade in autoinflammatory syndromes
AA Jesus, R Goldbach-Mansky
Annual review of medicine 65, 223-244, 2014
Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade
S Stojanov, S Lapidus, P Chitkara, H Feder, JC Salazar, TA Fleisher, ...
Proceedings of the National Academy of Sciences 108 (17), 7148-7153, 2011
High incidence of NLRP3 somatic mosaicism in patients with chronic infantile neurologic, cutaneous, articular syndrome: Results of an international multicenter …
N Tanaka, K Izawa, MK Saito, M Sakuma, K Oshima, O Ohara, ...
Arthritis & Rheumatism 63 (11), 3625-3632, 2011
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