Kastner Publications

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


Dan Kastner, M.D., Ph.D.

Scientific Director, Division of Intramural Research
NIH Distinguished Investigator, Medical Genetics Branch
Head, Inflammatory Disease Section

Selected Publications

Pras E, Aksentijevich I, Gruberg L, Balow JE Jr, Prosen L, Dean M, Steinberg AD, Pras M, Kastner DL. Mapping of a gene causing familial Mediterranean fever to the short arm of chromosome 16. N Engl J Med, 326:1509-1513. 1992. [PubMed]

International FMF Consortium (Kastner DL, corresponding author). Ancient missense mutations in a new member of the RoRet gene family are likely to cause familial Mediterranean fever. Cell, 90:797-807. 1997. [PubMed]

McDermott MF, Aksentijevich I, Galon J, McDermott EM, Ogunkolade BW, Centola M, Mansfield E, Gadina M, Karenko L, Pettersson T, McCarthy J, Frucht DM, Aringer M, Torosyan Y, Teppo A-M, Wilson M, Karaarslan HM, Wan Y, Todd I, Wood G, Schlimgen R, Kumarajeewa TR, Cooper SM, Vella JP, Amos CI, Mulley J, Quane KA, Molloy MG, Ranki A, Powell RJ, Hitman GA, O'Shea JJ, Kastner DL. Germline mutations in the extracellular domains of the 55 kDa TNF receptor, TNFR1, define a family of dominantly inherited autoinflammatory syndromes. Cell, 97:133-144. 1999. [PubMed]

Hull KM, Drewe E, Aksentijevich I, Singh H, McDermott EM, Dean J, Powell RJ, Kastner DL. The TNF receptor-associated periodic syndrome: emerging concepts of an autoinflammatory disorder. Medicine (Baltimore), 81:349-368. 2002. [PubMed]

Aksentijevich I, Nowak M, Mallah M, Chae JJ, Watford WT, Hoffman SR, Stein L, Russo R, Goldsmith D, Dent P, Rosenberg HF, Austin F, Remmers EF, Balow JE Jr, 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, 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, 46:3340-3348. 2002. [PubMed]

Chae JJ, Komarow H, Cheng J, Wood G, Raben N, Liu PP, Kastner DL. Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis. Mol Cell, 11:591-604. 2003. [PubMed]

Shoham NG, Centola M, Mansfield E, Hull KM, Wood G, Wise CA, Kastner DL. Pyrin binds the PSTPIP1/CD2BP1 protein, defining PAPA syndrome and familial Mediterranean fever as disorders in the same pathway. Proc Natl Acad Sci USA, 100:13501-13506. 2003. [PubMed]

Chae JJ, Wood G, Masters SL, Richards K, Park G, Smith BJ, Kastner DL. The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1b production. Proc Natl Acad Sci USA, 103:9982-9987. 2006. [PubMed]

Goldbach-Mansky R, Dailey NJ, Canna SW, Gelabert A, Jones J, Rubin BI, Kim HJ, Brewer C, Zelewski C, Wiggs E, Hill S, Turner ML, Karp BI, Aksentijevich I, Pucino F, Penzak S, Haverkamp MH, Stein L, Adams BS, Moore TL, Fuhlbrigge RC, Shaham B, Jarvis JN, O'Neill 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, Hoffman SC, Holland SM, Butman JA, Kastner DL. Neonatal onset multisystem inflammatory disease responsive to IL-1b inhibition. N Engl J Med, 355:581-592. 2006. [PubMed]

Aksentijevich I, Putnam CD, Remmers EF, Mueller JL, Kolodner RD, Moak Z, Chuang M, Austin F, Goldbach-Mansky R, Hoffman HM, Kastner DL. The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in the North American cohort of patients and a new cryopyrin model. Arthritis Rheum, 56:1273-1285. 2007. [PubMed]

Remmers EF, Plenge RM, Lee AT, Graham RR, Hom G, Behrens TW, de Bakker PIW, Le JM, Lee H-S, Batliwalla F, Li W, Masters SL, Booty MG, Carulli JP, Padyukov L, Alfredsson L, Klareskog L, Chen WV, Amos CI, Criswell LA, Seldin MF, Kastner DL, Gregersen PK. STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus. N Engl J Med, 357:977-986. 2007. [PubMed]

Chae JJ, Wood G, Richard K, Jaffe H, Colburn NT, Masters SL, Gumucio DL, Shoham NG, Kastner DL. The Familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kB through its N-terminal fragment. Blood, 112:1794-1803. 2008. [PubMed]

Masters SL, Simon A, Aksentijevich I, Kastner DL. Horror Autoinflammaticus: the molecular pathophysiology of autoinflammatory disease. Annu Rev Immunol, 27:621-668. 2009. [PubMed]

Aksentijevich I, Masters SL, Ferguson PJ, Dancey P, Frenkel J, van Royen-Kerkhoff A, Laxer R, Tedgċrd U, Cowen EW, Pham T-H, 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, Lee C-CR, Chapelle D, Clarke GI, Ohson K, Nicholson M, Gadina M, Yang B, Korman BD, Gregersen PK, van Hagen M, 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, 360:2426­-2437. 2009. [PubMed]

Booty MG, Chae JJ, Masters SL, Remmers EF, Barham B, Le JM, Barron KS, Kastner DL, Aksentijevich I. Familial Mediterranean fever with a single MEFV mutation: where is the second hit? Arthritis Rheum, 60:1851-1861. 2009. [PubMed]

Brydges SD, Mueller JL, McGeough MD, Pena CA, Misaghi A, Gandhi C, Boyle DL, Firestein GS, Horner AA, Soroosh P, Watford WT, O'Shea JJ, Kastner DL, Hoffman HM. Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity. Immunity, 30:875­-887. 2009. [PubMed]

Kastner DL, Aksentijevich I, Goldbach-Mansky R. Autoinflammatory disease reloaded: a clinical perspective. Cell, 140:784-790. 2010. [PubMed]

Simon A, Park H, Maddipati R, Lobito AA, Bulua AC, Jackson AL, Chae JJ, Ettinger R, de Koning HD, Cruz AC, Kastner DL, Komarow H, Siegel RM. Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome. Proc Natl Acad Sci USA, 107:9801-9806. 2010. [PubMed]

Remmers EF, Cosan F, Kirino Y, Ombrello MJ, Abaci N, Satorius C, Le JM, Yang B, Korman BD, Cakris A, Aglar O, Emrence Z, Azakli H, Ustek D, Tugal-Tutkun I, Akman-Demir G, Chen W, Amos CI, Dizon MB, Kose AA, Azizlerli G, Erer B, Brand OJ, Kaklamani VG, Kaklamanis P, Ben-Chetrit E, Stanford M, Fortune F, Ghabra M, Ollier WER, Cho Y-H, Bang D, O'Shea J, Wallace GR, Gadina M, Kastner DL, Gül A. Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease. Nature Genet, 42:698-702. 2010. [PubMed]

BookChapters

Colburn NT, Kastner DL. The hereditary periodic fevers, in Rheumatology, 4th ed., MC Hochberg, AJ Silman, JS Smolen, ME Weinblatt, MH Weisman, eds., pp. 1619-1640. 2008.

Kastner DL. Familial Mediterranean fever, in Harrison's Principles of Internal Medicine, 17th ed., AS Fauci, DL Kasper, E Braunwald, SL Hauser, DL Longo, JL Jameson, J Loscalzo, eds., pp. 2142-2145. 2008.

Top of page

Last Reviewed: August 19, 2013