Translational Autoinflammatory Disease Section

Raphaela T. Goldbach-Mansky, M.D., M.H.S.
Acting Chief
Phone: 301-435-6243

Translational Autoinflammatory Disease Section research focus is on applying a systematic approach to the clinical and immunological description of a number of autoinflammatory diseases. The lab uses targeted interventions to understand the role of specific inflammatory pathways in the pathogenesis of the autoinflammatory diseases. The discovery of single gene mutations, which modify the regulation of inflammatory pathways triggered by exogenous and endogenous “danger” molecules in a number of autoinflammatory diseases has provided new targets to treat and new concepts to understand this disease group. The studies on patients with neonatal-onset multisystem inflammatory disease, NOMID, have demonstrated the pivotal role of IL-1 beta oversecretion on the often devastating inflammatory multiorgan manifestations which include CNS and sensory organ inflammation (i.e. aseptic meningitis, cochlear inflammation and eye inflammation), rash, systemic inflammation with fevers and joint involvement. The overlap of clinical symptoms has led to the investigation of the role of IL-1 in other autoinflammatory/ autoimmune diseases.
Translational Autoinflammatory Disease Section works in partnership with Dr. Dan Kastner the Adjunct Investigator of NIAMS, and his laboratory group. This collaboration has led to the discovery and characterization of genes underlying a number of other autoinflammatory/autoimmune conditions.

Photo of Dr. Goldbach-Mansky, Dr. Liu, and Dr. Chen in the lab Photo of Damaris Garcia working in the lab

Selected Publications

Canna SW1, de Jesus AA2, Gouni S1, Brooks SR3, Marrero B2, Liu Y2, DiMattia MA4, Zaal KJ5, Sanchez GA6, Kim H2, Chapelle D6, Plass N6, Huang Y2, Villarino AV1, Biancotto A7, Fleisher TA8, Duncan JA9, O'Shea JJ1, Benseler S10, Grom A11, Deng Z3, Laxer RM12, Goldbach-Mansky R2. An activating NLRC4 inflammasome mutation causes autoinflammation with recurrent macrophage activation syndrome. Nat Genet. 2014 Oct;46(10):1140-6. doi: 10.1038/ng.3089. Epub 2014 Sep 14. PubMed Icon

Liu Y1, Jesus AA, Marrero B, Yang D, Ramsey SE, Montealegre Sanchez GA, Tenbrock K, Wittkowski H, Jones OY, Kuehn HS, Lee CC, DiMattia MA, Cowen EW, Gonzalez B, Palmer I, DiGiovanna JJ, Biancotto A, Kim H, Tsai WL, Trier AM, Huang Y, Stone DL, Hill S, Kim HJ, St Hilaire C, Gurprasad S, Plass N, Chapelle D, Horkayne-Szakaly I, Foell D, Barysenka A, Candotti F, Holland SM, Hughes JD, Mehmet H, Issekutz AC, Raffeld M, McElwee J, Fontana JR, Minniti CP, Moir S, Kastner DL, Gadina M, Steven AC, Wingfield PT, Brooks SR, Rosenzweig SD, Fleisher TA, Deng Z, Boehm M, Paller AS, Goldbach-Mansky R. Activated STING in a Vascular and Pulmonary Syndrome. N Engl J Med. 2014 Aug 7;371(6):507-18. doi: 10.1056/NEJMoa1312625. Epub 2014 Jul 16. PubMed Icon

Goldbach-Mansky R. 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-1. Clin Exp Immunol. 2012 Mar;167(3):391-404. doi: 10.1111/j.1365-2249.2011.04533.x. PubMed Icon

Sibley CH, Plass N, Snow J, Wiggs E, Brewer C, King K, Zalewski C, Kim HJ, Bishop R, Hill S, Kicker P, Phillips Z, Dolan JG, Widemann B, Jayaprakash N, Pucino F, Stone D, Chapelle D, Snyder C, Butman JA, Wesley R, Goldbach-Mansky R. Sustained response and prevention of damage progression in patients with neonatal-onset multisystem inflammatory disease (NOMID) treated with anakinra. Arthritis Rheum. 2012 Jan 31. doi: 10.1002/art.34409. [Epub ahead of print] PubMed Icon

Liu Y, Ramot Y, Torrelo A, Paller AS, Si N, Babay S, Kim PW, Sheikh A, Lee CC, Chen Y, Vera A, Zhang X, Goldbach-Mansky R, Zlotogorski A. Mutations in PSMB8 cause CANDLE syndrome with evidence of genetic and phenotypic heterogeneity. Arthritis Rheum. 2011 Sep 27. doi: 10.1002/art.33368 PubMed Icon

Aksentijevich I1, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgård U, Cowen EW, Pham TH, Booty M, Estes JD, Sandler NG, Plass N, Stone DL, Turner ML, Hill S, Butman JA, Schneider R, Babyn P, El-Shanti HI, Pope E, Barron K, Bing X, Laurence A, Lee CC, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen PM, Hak AE, Huizing M, Rahman P, Douek DC, Remmers EF, Kastner DL, Goldbach-Mansky R. An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist. N Engl J Med. 2009 Jun 4;360(23):2426-37. doi: 10.1056/NEJMoa0807865. PubMed Icon

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 SR, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neil K, Vehe RK, Beitz LO, Gardner G, Hannan WP, Warren RW, Horn W, Cole JL, Paul SM, Hawkins PN, Pham TH, Snyder C, Wesley RA, Hoffmann SC, Holland SM, Butman JA, Kastner DL. Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition. N Engl J Med. 2006 Aug 10;355(6):581-92. PubMed Icon

See extended list of publications


Reviewed September 24, 2012