Daniel L Kastner

Summary

Affiliation: National Institutes of Health
Country: USA

Publications

  1. pmc Autoinflammatory disease reloaded: a clinical perspective
    Daniel 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
  2. pmc Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
    Yohei Kirino
    Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1849, USA
    Proc Natl Acad Sci U S A 110:8134-9. 2013
  3. pmc The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment
    Jae Jin Chae
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892 1820, USA
    Blood 112:1794-803. 2008
  4. pmc Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
    Matthew G Booty
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1820, USA
    Arthritis Rheum 60:1851-61. 2009
  5. ncbi request reprint 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
    Ivona Aksentijevich
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
    Arthritis Rheum 46:3340-8. 2002
  6. pmc Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice
    Jae Jin Chae
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Immunity 34:755-68. 2011
  7. pmc Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)
    Ariel C Bulua
    Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutesof Health, Bethesda, MD 20892, USA
    J Exp Med 208:519-33. 2011
  8. pmc Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    Nitza G Shoham
    Genetics and Genomics Branch and Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 100:13501-6. 2003
  9. doi request reprint The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP
    Geun 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
  10. pmc The chromosome 7q region association with rheumatoid arthritis in females in a British population is not replicated in a North American case-control series
    Benjamin D Korman
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1849, USA
    Arthritis Rheum 60:47-52. 2009

Detail Information

Publications44

  1. pmc Autoinflammatory disease reloaded: a clinical perspective
    Daniel 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...
  2. pmc Targeted resequencing implicates the familial Mediterranean fever gene MEFV and the toll-like receptor 4 gene TLR4 in Behçet disease
    Yohei Kirino
    Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892 1849, USA
    Proc Natl Acad Sci U S A 110:8134-9. 2013
    ..65; P = 1.8 × 10(-12)). The disease-associated NSVs in MEFV and TLR4 implicate innate immune and bacterial sensing mechanisms in BD pathogenesis...
  3. pmc The familial Mediterranean fever protein, pyrin, is cleaved by caspase-1 and activates NF-kappaB through its N-terminal fragment
    Jae Jin Chae
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892 1820, USA
    Blood 112:1794-803. 2008
    ..Our data support a new pyrin/caspase-1 pathway for NF-kappaB activation...
  4. pmc Familial Mediterranean fever with a single MEFV mutation: where is the second hit?
    Matthew G Booty
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1820, USA
    Arthritis Rheum 60:1851-61. 2009
    ..The purpose of this study was to perform an extensive search for a second MEFV mutation in 46 patients diagnosed clinically as having FMF and carrying only 1 high-penetrance FMF mutation...
  5. ncbi request reprint 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
    Ivona Aksentijevich
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
    Arthritis Rheum 46:3340-8. 2002
    ....
  6. pmc Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice
    Jae Jin Chae
    Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA
    Immunity 34:755-68. 2011
    ..Thus, our data provide evidence for an ASC-dependent NLRP3-independent inflammasome in which gain-of-function pyrin mutations cause autoinflammatory disease...
  7. pmc Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS)
    Ariel C Bulua
    Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutesof Health, Bethesda, MD 20892, USA
    J Exp Med 208:519-33. 2011
    ..These findings suggest that mitochondrial ROS may be a novel therapeutic target for TRAPS and other inflammatory diseases...
  8. pmc Pyrin binds the PSTPIP1/CD2BP1 protein, defining familial Mediterranean fever and PAPA syndrome as disorders in the same pathway
    Nitza G Shoham
    Genetics and Genomics Branch and Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 100:13501-6. 2003
    ....
  9. doi request reprint The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP
    Geun 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...
  10. pmc The chromosome 7q region association with rheumatoid arthritis in females in a British population is not replicated in a North American case-control series
    Benjamin D Korman
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892 1849, USA
    Arthritis Rheum 60:47-52. 2009
    ..We sought to replicate this finding and to better characterize susceptibility alleles in the region in a North American population...
  11. pmc The B30.2 domain of pyrin, the familial Mediterranean fever protein, interacts directly with caspase-1 to modulate IL-1beta production
    Jae Jin Chae
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 103:9982-7. 2006
    ..Our data support a direct, ASC-independent effect of pyrin on IL-1beta activation and suggest heightened IL-1 responsiveness as one factor selecting for pyrin mutations...
  12. pmc Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy
    Jae J Chae
    Laboratory of Clinical Investigation, National Institutes of Arthritis and Musculoskeletal and Skin Diseases, Genetics and Genomics Branch, Bethesda, MD 20892 1849, USA
    Br J Haematol 146:467-78. 2009
    ..In addition to the regulatory role of pyrin for caspase-1, the cleavage of pyrin provides an important clue not only in understanding the molecular pathogenesis of FMF but also in developing new therapeutic targets for FMF...
  13. pmc A hypermorphic missense mutation in PLCG2, encoding phospholipase Cγ2, causes a dominantly inherited autoinflammatory disease with immunodeficiency
    Qing Zhou
    Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA
    Am J Hum Genet 91:713-20. 2012
    ..Our results highlight the utility of exome-sequencing technology in finding causal mutations in nuclear families with dominantly inherited traits otherwise intractable by linkage analysis...
  14. pmc Brief report: genotype, phenotype, and clinical course in five patients with PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne)
    Andrew P Demidowich
    National Institute of Allergy and Infectious Diseases, NIH, Bethesda, MD, USA
    Arthritis Rheum 64:2022-7. 2012
    ..To describe the genotypes, phenotypes, immunophenotypes, and treatments of PAPA syndrome (pyogenic sterile arthritis, pyoderma gangrenosum, and acne), a rare autoinflammatory disease, in 5 patients...
  15. pmc Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*)
    Seth L Masters
    The National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Annu Rev Immunol 27:621-68. 2009
    ..A system based on molecular pathophysiology will bring greater clarity to our discourse while catalyzing new hypotheses both at the bench and at the bedside...
  16. pmc STAT4: genetics, mechanisms, and implications for autoimmunity
    Benjamin D Korman
    National Institute of Arthritis, Musculoskeletal, and Skin Diseases, 9 Memorial Drive, NIH Building 9, Room 1W108, Bethesda, MD 20892, USA
    Curr Allergy Asthma Rep 8:398-403. 2008
    ..In concert with the identification of other disease-associated loci, elucidating how the variant form of STAT4 modulates immune function should lead to an improved understanding of the pathophysiology of autoimmunity...
  17. pmc Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome
    Anna Simon
    Inflammatory Biology Section, Laboratory of Clinical Investigation and Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Proc Natl Acad Sci U S A 107:9801-6. 2010
    ....
  18. ncbi request reprint Recent advances in the molecular pathogenesis of hereditary recurrent fevers
    Seth L Masters
    The National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda 20892, Maryland, USA
    Curr Opin Allergy Clin Immunol 6:428-33. 2006
    ....
  19. pmc Efficacy of etanercept in the tumor necrosis factor receptor-associated periodic syndrome: a prospective, open-label, dose-escalation study
    Ariel C Bulua
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD 20892, USA
    Arthritis Rheum 64:908-13. 2012
    ..To investigate the efficacy of etanercept in improving the symptoms and underlying inflammation in patients with tumor necrosis factor receptor-associated periodic syndrome (TRAPS)...
  20. ncbi request reprint The hereditary autoinflammatory syndromes
    Puja Chitkara
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Center Drive, Bethesda, MD, USA
    Pediatr Infect Dis J 26:353-4. 2007
  21. pmc An autoinflammatory disease with deficiency of the interleukin-1-receptor antagonist
    Ivona 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...
  22. pmc 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 syndrome
    Raphaela 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...
  23. pmc Genome-wide association analysis identifies new susceptibility loci for Behçet's disease and epistasis between HLA-B*51 and ERAP1
    Yohei Kirino
    Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA
    Nat Genet 45:202-7. 2013
    ....
  24. doi request reprint Microarray-based gene expression profiling in patients with cryopyrin-associated periodic syndromes defines a disease-related signature and IL-1-responsive transcripts
    James E Balow
    Inflammatory Disease Section, National Human Genome Research Institute NHGRI, Bethesda, Maryland 20892 1820, USA
    Ann Rheum Dis 72:1064-70. 2013
    ..The molecular consequences of interleukin 1 inhibition were examined by comparing gene expression patterns in 16 CAPS patients before and after treatment with anakinra...
  25. doi request reprint Lighting the fires within: the cell biology of autoinflammatory diseases
    Heiyoung Park
    Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases NIAMS, National Institutes of Health NIH, Bethesda, Maryland, USA
    Nat Rev Immunol 12:570-80. 2012
    ....
  26. pmc Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity
    Susannah D Brydges
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Immunity 30:875-87. 2009
    ..These data suggest that CAPS are true inflammasome-mediated diseases and provide insight for more common inflammatory disorders...
  27. pmc Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses
    Raphaela 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
    ....
  28. ncbi request reprint Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome
    Kazuki Takada
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Arthritis Rheum 48:2645-51. 2003
    ..This study assessed the effects of etanercept, a soluble p75 TNF alpha receptor-Fc fusion protein, in 2 patients with HIDS...
  29. pmc Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity
    Michael J Ombrello
    Translational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892 Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892
    Proc Natl Acad Sci U S A 111:8867-72. 2014
    ..The locations of these variants collectively implicate MHC-I peptide binding in the pathophysiology of BD. Furthermore, several lines of evidence suggest a role for altered regulation of cellular cytotoxicity in BD pathogenesis. ..
  30. pmc Cold urticaria, immunodeficiency, and autoimmunity related to PLCG2 deletions
    Michael J Ombrello
    Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA
    N Engl J Med 366:330-8. 2012
    ..Mendelian analysis of disorders of immune regulation can provide insight into molecular pathways associated with host defense and immune tolerance...
  31. pmc Genome-wide association study identifies variants in the MHC class I, IL10, and IL23R-IL12RB2 regions associated with Behçet's disease
    Elaine F Remmers
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
    Nat Genet 42:698-702. 2010
    ..34-1.58) and the IL23R-IL12RB2 locus (rs924080, P = 6.69 x 10(-9), OR = 1.28, 95% CI 1.18-1.39). The disease-associated IL10 variant (the rs1518111 A allele) was associated with diminished mRNA expression and low protein production...
  32. ncbi request reprint Neonatal-onset multisystem inflammatory disease responsive to interleukin-1beta inhibition
    Raphaela 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...
  33. ncbi request reprint The clinical continuum of cryopyrinopathies: novel CIAS1 mutations in North American patients and a new cryopyrin model
    Ivona 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...
  34. ncbi request reprint Targeted disruption of pyrin, the FMF protein, causes heightened sensitivity to endotoxin and a defect in macrophage apoptosis
    Jae Jin Chae
    Inflammatory Biology Section, Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD 20892, USA
    Mol Cell 11:591-604. 2003
    ..These data support a critical role for pyrin in the innate immune response, possibly by acting on ASC, and suggest a biologic basis for the selection of hypomorphic pyrin variants in man...
  35. ncbi request reprint Monocytic fasciitis: a newly recognized clinical feature of tumor necrosis factor receptor dysfunction
    Keith M Hull
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892, USA
    Arthritis Rheum 46:2189-94. 2002
    ..These results suggest that the myalgia experienced by individuals with TRAPS is due to a monocytic fasciitis and not to myositis...
  36. ncbi request reprint The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder
    Keith M Hull
    Office of the Clinical Director, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA
    Medicine (Baltimore) 81:349-68. 2002
    ..Our laboratories are currently undertaking both clinical and basic research studies to define the role of these mutations in more common inflammatory diseases...
  37. pmc Periodic fever, aphthous stomatitis, pharyngitis, and adenitis (PFAPA) is a disorder of innate immunity and Th1 activation responsive to IL-1 blockade
    Silvia 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...
  38. pmc Abnormal disulfide-linked oligomerization results in ER retention and altered signaling by TNFR1 mutants in TNFR1-associated periodic fever syndrome (TRAPS)
    Adrian A Lobito
    Immunoregulation Unit, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda MD 20892, USA
    Blood 108:1320-7. 2006
    ..In contrast, the R92Q variant of TNFR1 behaved like the wild-type receptor in all of these assays. The inflammatory phenotype of TRAPS may be due to consequences of mutant TNFR1 protein misfolding and ER retention...
  39. ncbi request reprint The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations
    Keith M Hull
    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 15:61-9. 2003
    ..Lastly, the authors discuss the broadening genetic and clinical spectrum of TRAPS, an autoinflammatory syndrome resulting from mutations in the 55-kDa receptor for tumor necrosis factor...
  40. ncbi request reprint Challenges and opportunities for systemic amyloidosis research. Summary of an advisory workshop sponsored by the NIH Office of Rare Diseases, Bethesda, Maryland, June 20, 2006
    Daniel G Wright
    The Hematology Research Program, National Institute of Diabetes and Digestive and Kidney Diseases NIH, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Amyloid 14:103-12. 2007
  41. pmc STAT4 and the risk of rheumatoid arthritis and systemic lupus erythematosus
    Elaine F Remmers
    National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, USA
    N Engl J Med 357:977-86. 2007
    ..Rheumatoid arthritis is a chronic inflammatory disease with a substantial genetic component. Susceptibility to disease has been linked with a region on chromosome 2q...
  42. ncbi request reprint Familial autoinflammatory diseases: genetics, pathogenesis and treatment
    Silvia Stojanov
    Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    Curr Opin Rheumatol 17:586-99. 2005
    ..This review elucidates how recent advances have impacted diagnosis, pathogenesis, and treatment...
  43. ncbi request reprint Human transthyretin intronic open reading frames are not independently expressed in vivo or part of functional transcripts
    Miguel Luz Soares
    Arthritis and Rheumatism Branch, Genetics Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bldg 10, Rm 9N216, 9000 Rockville Pike, Bethesda, MD 20892, USA
    Biochim Biophys Acta 1626:65-74. 2003
    ..Neither ORF is productively expressed as part of a larger transcript, or as an independent polypeptide...
  44. ncbi request reprint Characterization and analysis of the proximal Janus kinase 3 promoter
    Martin Aringer
    Molecular Immunology and Inflammation Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA
    J Immunol 170:6057-64. 2003
    ..Thus, transcription factors that bind these sites, especially Ets family members, are likely to be important regulators of Jak3 expression...