Publications by authors named "Daniel L Kastner"

100Publications

Somatic Mutations in and Severe Adult-Onset Autoinflammatory Disease.

N Engl J Med 2020 Oct 27. Epub 2020 Oct 27.

From the National Human Genome Research Institute (D.B.B., A.K.O., W.P., N.B., D.L.R., D.O.C., K.M., P.H., S.R., L.X., H.O., M.N., A.J., R.S.L., N.D., J.J.C., M.C.V.M., D.N., B.D.S., W.A.G., S.M.B., I.A., D.L.K.), the National Institute of Arthritis and Musculoskeletal and Skin Diseases (M.A.F., K.A.S., S.N., W.L.T., S.G., C.C.-R., W.G., E.R., K.V.W., G.W., S.B., S.D., Z.D., R.A.C., M.J.K., M.G., P.C.G.), the National Institute of Dental and Craniofacial Research (J.C.C., A.J.A., A.W.), the Undiagnosed Diseases Program, Common Fund, Office of the Director (N.B., D.L.R., M.C.V.M., D.N., W.A.G.), the Hematology Branch, National Heart, Lung, and Blood Institute (Z.W., B.P., E.M.G., F.G.-R., L.W.D., C.S.H., N.S.Y.), the National Institute of Allergy and Infectious Diseases (K.S.B.), the Laboratory of Pathology, Center for Cancer Research, National Cancer Institute (C.-C.R.L.), the National Institutes of Health (NIH) Intramural Sequencing Center, National Human Genome Research Institute (J.M.), the Department of Laboratory Medicine (W.W., M.T., A.D.-F., K.R.C.), and the National Eye Institute (M.A.-A.), NIH, Bethesda, and GeneDx, Gaithersburg (K.R.) - both in Maryland; and the National Amyloidosis Centre, Royal Free Hospital London NHS Foundation Trust and University College London, London (D.R., H.J.L.), and the National Institute for Health Research-Leeds Biomedical Research Centre and Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds (S.S.) - both in the United Kingdom.

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http://dx.doi.org/10.1056/NEJMoa2026834DOI Listing
October 2020

The systemic autoinflammatory diseases: Coming of age with the human genome.

J Allergy Clin Immunol 2020 Nov 25;146(5):997-1001. Epub 2020 Sep 25.

National Human Genome Research Institute, Bethesda, Md. Electronic address:

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http://dx.doi.org/10.1016/j.jaci.2020.09.014DOI Listing
November 2020

Deficiency of adenosine deaminase 2: Is it an elephant after all?

J Allergy Clin Immunol 2020 Jun 27;145(6):1560-1561. Epub 2020 Apr 27.

National Human Genome Research Institute, National Institutes of Health, Bethesda, Md.

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http://dx.doi.org/10.1016/j.jaci.2020.04.023DOI Listing
June 2020

Critical Signaling Events in the Mechanoactivation of Human Mast Cells through p.C492Y-ADGRE2.

J Invest Dermatol 2020 Nov 25;140(11):2210-2220.e5. Epub 2020 Mar 25.

Mast Cell Biology Section, Laboratory of Allergic Diseases, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, Maryland, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jid.2020.03.936DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7529699PMC
November 2020

The Pyrin Inflammasome in Health and Disease.

Front Immunol 2019 7;10:1745. Epub 2019 Aug 7.

Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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https://www.frontiersin.org/article/10.3389/fimmu.2019.01745
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http://dx.doi.org/10.3389/fimmu.2019.01745DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6698799PMC
October 2020

Deficiency of adenosine deaminase 2 triggers adenosine-mediated NETosis and TNF production in patients with DADA2.

Blood 2019 07 23;134(4):395-406. Epub 2019 Apr 23.

Systemic Autoimmunity Branch, Intramural Research Program, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD.

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http://dx.doi.org/10.1182/blood.2018892752DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6659253PMC
July 2019

Consensus proposal for taxonomy and definition of the autoinflammatory diseases (AIDs): a Delphi study.

Ann Rheum Dis 2018 11 12;77(11):1558-1565. Epub 2018 Aug 12.

Clinica Pediatrica e Reumatologia-PRINTO, Istituto Giannina Gaslini, Genoa, Italy.

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http://dx.doi.org/10.1136/annrheumdis-2017-212515DOI Listing
November 2018

Neurodegenerative diseases have genetic hallmarks of autoinflammatory disease.

Hum Mol Genet 2018 08;27(R2):R108-R118

National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, USA.

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http://dx.doi.org/10.1093/hmg/ddy139DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061832PMC
August 2018

The monogenic autoinflammatory diseases define new pathways in human innate immunity and inflammation.

Nat Immunol 2017 Jul;18(8):832-842

Inflammatory Disease Section, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ni.3777DOI Listing
July 2017

Genomics, Biology, and Human Illness: Advances in the Monogenic Autoinflammatory Diseases.

Rheum Dis Clin North Am 2017 08;43(3):327-345

Inflammatory Disease Section, Intramural Research Program, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Building 50, Room 5222, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.rdc.2017.04.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5564228PMC
August 2017

The Yersinia Virulence Factor YopM Hijacks Host Kinases to Inhibit Type III Effector-Triggered Activation of the Pyrin Inflammasome.

Cell Host Microbe 2016 Sep 25;20(3):296-306. Epub 2016 Aug 25.

Department of Molecular Genetics and Microbiology, School of Medicine, Stony Brook University, Stony Brook, NY 11794, USA; Center for Infectious Diseases, School of Medicine, Stony Brook University, Stony Brook, NY 11794, USA. Electronic address:

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http://dx.doi.org/10.1016/j.chom.2016.07.018DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5025386PMC
September 2016

Hypophosphatasia and the risk of atypical femur fractures: a case-control study.

BMC Musculoskelet Disord 2016 08 9;17:332. Epub 2016 Aug 9.

Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, 20892-1849, USA.

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http://dx.doi.org/10.1186/s12891-016-1191-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4977896PMC
August 2016

Old Dogs, New Tricks: Monogenic Autoinflammatory Disease Unleashed.

Annu Rev Genomics Hum Genet 2016 08 2;17:245-72. Epub 2016 Jun 2.

Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892; email:

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http://www.annualreviews.org/doi/10.1146/annurev-genom-09041
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http://dx.doi.org/10.1146/annurev-genom-090413-025334DOI Listing
August 2016

Pyrin inflammasome activation and RhoA signaling in the autoinflammatory diseases FMF and HIDS.

Nat Immunol 2016 08 6;17(8):914-21. Epub 2016 Jun 6.

Inflammatory Disease Section, Metabolic, Cardiovascular and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, US National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/ni.3457DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4955684PMC
August 2016

Vibratory Urticaria Associated with a Missense Variant in ADGRE2.

N Engl J Med 2016 Feb 3;374(7):656-63. Epub 2016 Feb 3.

From the Inflammatory Disease Section, National Human Genome Research Institute (S.E.B., C.L.S., D.L.K.), Mast Cell Biology Section, National Institute of Allergy and Infectious Diseases, (A.D., G.C., H.C.B., L.M.S., A.R.E., A.O., D.D.M., H.D.K.), Laboratory of Pathology, National Cancer Institute (C.-C.R.L.), and National Institutes of Health (NIH) Intramural Sequencing Center, National Human Genome Research Institute (J.C.M.), NIH, Bethesda, and Clinical Research Directorate-Clinical Monitoring Research Program, Leidos Biomedical Research, Frederick National Laboratory for Cancer Research, Frederick (M.L.Y.) - both in Maryland; Veterinary Pathology Section, Rocky Mountain Laboratories, National Institute of Allergy and Infectious Diseases, NIH, Hamilton, MT (R.D.L.); the Department of Genetics, Yale University School of Medicine, New Haven, CT (A.J.P., K.K.K.); Medical Genetics Unit, Saint Joseph University, Beirut (E.C.) and Department of Life and Earth Sciences, Faculty of Sciences II, Lebanese University, Fanar (M.M.-H.) - both in Lebanon; and Institut Jérôme Lejeune, Paris (A.M.).

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http://dx.doi.org/10.1056/NEJMoa1500611DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4782791PMC
February 2016

The immunogenetics of Behçet's disease: A comprehensive review.

J Autoimmun 2015 Nov 5;64:137-48. Epub 2015 Sep 5.

Inflammatory Disease Section, Metabolic, Cardiovascular, and Inflammatory Disease Genomics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jaut.2015.08.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4628864PMC
November 2015

Aberrant actin depolymerization triggers the pyrin inflammasome and autoinflammatory disease that is dependent on IL-18, not IL-1β.

J Exp Med 2015 Jun 25;212(6):927-38. Epub 2015 May 25.

Division of Inflammation, Division of Cancer and Hematology, Division of Immunology, and ACRF Chemical Biology Division, The Walter and Eliza Hall Institute of Medical Research, Parkville, Victoria 3052, Australia Department of Medical Biology, The University of Melbourne, Parkville, Victoria 3010, Australia

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http://dx.doi.org/10.1084/jem.20142384DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4451132PMC
June 2015

Endoplasmic reticulum-associated amino-peptidase 1 and rheumatic disease: genetics.

Curr Opin Rheumatol 2015 Jul;27(4):349-56

aTranslational Genetics and Genomics Unit, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health bInflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/BOR.0000000000000189DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4565054PMC
July 2015

Reply to Stoimenis et al.

Eur J Hum Genet 2015 Oct 14;23(10):1280. Epub 2015 Jan 14.

Department of Biological Sciences and Bioengineering, Faculty of Engineering and Natural Sciences, Sabanci University, Istanbul, Turkey.

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http://dx.doi.org/10.1038/ejhg.2014.288DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4592084PMC
October 2015

When less is more: primary immunodeficiency with an autoinflammatory kick.

Curr Opin Allergy Clin Immunol 2014 Dec;14(6):491-500

Inflammatory Disease Section, Intramural Research Program, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland, USA.

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http://dx.doi.org/10.1097/ACI.0000000000000117DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4212813PMC
December 2014

Identification of possible pathogenic pathways in Behçet's disease using genome-wide association study data from two different populations.

Eur J Hum Genet 2015 May 17;23(5):678-87. Epub 2014 Sep 17.

Biological Sciences and Bioengineering, Faculty of Engineering and Natural Sciences, Sabanci University, Istanbul, Turkey.

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http://dx.doi.org/10.1038/ejhg.2014.158DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4402634PMC
May 2015

Mutant ADA2 in vasculopathies.

N Engl J Med 2014 07;371(5):480-1

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http://dx.doi.org/10.1056/NEJMc1405506DOI Listing
July 2014

Genetics, genomics, and their relevance to pathology and therapy.

Best Pract Res Clin Rheumatol 2014 Apr;28(2):175-89

National Human Genome Research Institute, NIH, DHHS, 9000 Rockville Pike, Building 50, Room 5222, MSC 8002, Bethesda, MD 20892-8002, USA. Electronic address:

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http://dx.doi.org/10.1016/j.berh.2014.05.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4149217PMC
April 2014

Behçet disease-associated MHC class I residues implicate antigen binding and regulation of cell-mediated cytotoxicity.

Proc Natl Acad Sci U S A 2014 Jun 12;111(24):8867-72. Epub 2014 May 12.

Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892;

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http://dx.doi.org/10.1073/pnas.1406575111DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4066484PMC
June 2014

HOIL and water: the two faces of HOIL-1 deficiency.

Nat Immunol 2012 Dec;13(12):1133-5

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http://dx.doi.org/10.1038/ni.2471DOI Listing
December 2012

The calcium-sensing receptor regulates the NLRP3 inflammasome through Ca2+ and cAMP.

Nature 2012 Dec 11;492(7427):123-7. Epub 2012 Nov 11.

Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://www.usahealthsystem.com/workfiles/com_docs%2Facademic
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http://www.nature.com/doifinder/10.1038/nature11588
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http://dx.doi.org/10.1038/nature11588DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4175565PMC
December 2012

Lighting the fires within: the cell biology of autoinflammatory diseases.

Nat Rev Immunol 2012 Jul 25;12(8):570-80. Epub 2012 Jul 25.

Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, Maryland, USA.

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http://dx.doi.org/10.1038/nri3261DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4165575PMC
July 2012

Genetics of monogenic autoinflammatory diseases: past successes, future challenges.

Nat Rev Rheumatol 2011 Jul 5;7(8):469-78. Epub 2011 Jul 5.

Inflammatory Disease Section, National Human Genome Research Institute, Building 10/Room 10C101B, 10 Center Drive, MSC 1849, Bethesda, MD 20892-1849, USA. aksentii@ exchange.nih.gov

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http://dx.doi.org/10.1038/nrrheum.2011.94DOI Listing
July 2011

Gain-of-function Pyrin mutations induce NLRP3 protein-independent interleukin-1β activation and severe autoinflammation in mice.

Immunity 2011 May 19;34(5):755-68. Epub 2011 May 19.

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.immuni.2011.02.020DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3129608PMC
May 2011

Clinical, Molecular, and Genetic Characteristics of PAPA Syndrome: A Review.

Curr Genomics 2010 Nov;11(7):519-27

Sarah M. and Charles E. Seay Center for Musculoskeletal Research, Scottish Rite Hospital for Children, Dallas, Texas 75219.

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http://dx.doi.org/10.2174/138920210793175921DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3048314PMC
November 2010

Effective sample size: Quick estimation of the effect of related samples in genetic case-control association analyses.

Comput Biol Chem 2011 Feb 22;35(1):40-9. Epub 2011 Jan 22.

Department of Statistics and Finance, University of Science and Technology of China, Anhui, Hefei, China.

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http://dx.doi.org/10.1016/j.compbiolchem.2010.12.006DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3119257PMC
February 2011

Autoinflammation in 2010: expanding clinical spectrum and broadening therapeutic horizons.

Nat Rev Rheumatol 2011 Feb;7(2):82-4

Inflammatory Disease Section, Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 10 Center Drive, 10C101, Bethesda, MD 20892-1849, USA.

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http://www.nature.com/articles/nrrheum.2010.229
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http://dx.doi.org/10.1038/nrrheum.2010.229DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3393888PMC
February 2011

Mitochondrial reactive oxygen species promote production of proinflammatory cytokines and are elevated in TNFR1-associated periodic syndrome (TRAPS).

J Exp Med 2011 Mar 31;208(3):519-33. Epub 2011 Jan 31.

Immunoregulation Section, Autoimmunity Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutesof Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1084/jem.20102049DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3058571PMC
March 2011

Concerted action of wild-type and mutant TNF receptors enhances inflammation in TNF receptor 1-associated periodic fever syndrome.

Proc Natl Acad Sci U S A 2010 May 10;107(21):9801-6. Epub 2010 May 10.

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.

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http://dx.doi.org/10.1073/pnas.0914118107DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2906866PMC
May 2010

Genome-wide association study meta-analysis identifies seven new rheumatoid arthritis risk loci.

Nat Genet 2010 Jun 9;42(6):508-14. Epub 2010 May 9.

Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.582DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4243840PMC
June 2010

Autoinflammatory disease reloaded: a clinical perspective.

Cell 2010 Mar;140(6):784-90

Laboratory of Clinical Investigation, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S009286741000238
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http://dx.doi.org/10.1016/j.cell.2010.03.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3541025PMC
March 2010

Data for Genetic Analysis Workshop 16 Problem 1, association analysis of rheumatoid arthritis data.

BMC Proc 2009 Dec 15;3 Suppl 7:S2. Epub 2009 Dec 15.

Departments of Epidemiology and Biomathematics, University of Texas, MD Anderson Cancer Center, 1155 Pressler Street, Houston, Texas 77030, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2795916PMC
http://dx.doi.org/10.1186/1753-6561-3-s7-s2DOI Listing
December 2009

Autoinflammation: the prominent role of IL-1 in monogenic autoinflammatory diseases and implications for common illnesses.

J Allergy Clin Immunol 2009 Dec;124(6):1141-9; quiz 1150-1

National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.jaci.2009.11.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2995268PMC
December 2009

Inflammasome-mediated disease animal models reveal roles for innate but not adaptive immunity.

Immunity 2009 Jun 4;30(6):875-87. Epub 2009 Jun 4.

Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.immuni.2009.05.005DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759865PMC
June 2009

Familial Mediterranean fever with a single MEFV mutation: where is the second hit?

Arthritis Rheum 2009 Jun;60(6):1851-61

Genetics and Genomics Branch, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, Maryland 20892-1820, USA.

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http://dx.doi.org/10.1002/art.24569DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2753538PMC
June 2009

Advances in the understanding of familial Mediterranean fever and possibilities for targeted therapy.

Br J Haematol 2009 Sep 14;146(5):467-78. Epub 2009 May 14.

Laboratory of Clinical Investigation, National Institutes of Arthritis and Musculoskeletal and Skin Diseases, Genetics and Genomics Branch, Bethesda, MD 20892-1849, USA.

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http://dx.doi.org/10.1111/j.1365-2141.2009.07733.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2759843PMC
September 2009

Horror autoinflammaticus: the molecular pathophysiology of autoinflammatory disease (*).

Annu Rev Immunol 2009 ;27:621-68

The National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1146/annurev.immunol.25.022106.141627DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2996236PMC
May 2009

Genetic risk factors for rheumatoid arthritis differ in Caucasian and Korean populations.

Arthritis Rheum 2009 Feb;60(2):364-71

Hanyang University College of Medicine and the Hospital for Rheumatic Diseases, Seoul, South Korea.

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http://dx.doi.org/10.1002/art.24245DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2770844PMC
February 2009