Ivona Aksentijevich

Ivona Aksentijevich

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Ivona Aksentijevich

Ivona Aksentijevich

Publications by authors named "Ivona Aksentijevich"

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Revisiting TNF Receptor-Associated Periodic Syndrome (TRAPS): Current Perspectives.

Int J Mol Sci 2020 May 5;21(9). Epub 2020 May 5.

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

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http://dx.doi.org/10.3390/ijms21093263DOI Listing
May 2020

New Horizons in the Genetic Etiology of Systemic Lupus Erythematosus and Lupus-Like Disease: Monogenic Lupus and Beyond.

J Clin Med 2020 Mar 5;9(3). Epub 2020 Mar 5.

Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.3390/jcm9030712DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC7141186PMC
March 2020

Pseudodominance of autoinflammatory disease in a single Turkish family explained by co-inheritance of haploinsufficiency of A20 and familial Mediterranean fever.

Clin Exp Rheumatol 2019 Nov-Dec;37 Suppl 121(6):89-92. Epub 2019 Jul 15.

Inflammatory Disease Section, National Human Genome Research Institute, US National Institutes of Health, Bethesda, MD, USA.

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January 2020

Biochemistry of Autoinflammatory Diseases: Catalyzing Monogenic Disease.

Front Immunol 2019 31;10:101. Epub 2019 Jan 31.

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

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http://dx.doi.org/10.3389/fimmu.2019.00101DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6365650PMC
December 2019

Current State of Precision Medicine in Primary Systemic Vasculitides.

Front Immunol 2019 17;10:2813. Epub 2019 Dec 17.

Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, United States.

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http://dx.doi.org/10.3389/fimmu.2019.02813DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6927998PMC
December 2019

Current and future advances in genetic testing in systemic autoinflammatory diseases.

Rheumatology (Oxford) 2019 11;58(Suppl 6):vi44-vi55

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

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http://dx.doi.org/10.1093/rheumatology/kez294DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6878845PMC
November 2019

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
August 2019

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

The use of leukocytes' secretome to individually target biological therapy in autoimmune arthritis: a case report.

Clin Transl Med 2019 Jun 5;8(1):19. Epub 2019 Jun 5.

Axe de recherche sur les maladies infectieuses et immunitaires, Centre de recherche du CHU de Québec-Université Laval, Room T1-49, 2705 Boul. Laurier, Québec, QC, G1V 4G2, Canada.

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http://dx.doi.org/10.1186/s40169-019-0236-7DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6548783PMC
June 2019

Detection of a novel mutation in NLRP3/CIAS1 gene in an Indian child with Neonatal-Onset Multisystem Inflammatory Disease (NOMID).

Clin Rheumatol 2019 Feb 31;38(2):403-406. Epub 2018 Jul 31.

Department of Pediatric Rheumatology, Jaslok Hospital and Research Centre, Mumbai, India.

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http://dx.doi.org/10.1007/s10067-018-4225-9DOI Listing
February 2019

Human adenosine deaminase 2 deficiency: A multi-faceted inborn error of immunity.

Immunol Rev 2019 01;287(1):62-72

Department of Microbiology and Immunology, Laboratory for Childhood Immunology, KU Leuven, Leuven, Belgium.

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http://dx.doi.org/10.1111/imr.12722DOI Listing
January 2019

Disrupted N-linked glycosylation as a disease mechanism in deficiency of ADA2.

J Allergy Clin Immunol 2018 10 21;142(4):1363-1365.e8. Epub 2018 Jun 21.

Division of Immunology, Boston Children's Hospital, Boston, Mass; Division of Rheumatology, Immunology and Allergy, Brigham and Women's Hospital, Boston, Mass.

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http://dx.doi.org/10.1016/j.jaci.2018.05.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6175612PMC
October 2018

Deficiency of Adenosine Deaminase 2 (DADA2): Updates on the Phenotype, Genetics, Pathogenesis, and Treatment.

J Clin Immunol 2018 07 27;38(5):569-578. Epub 2018 Jun 27.

Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, USA.

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http://dx.doi.org/10.1007/s10875-018-0525-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6061100PMC
July 2018

TNFAIP3 haploinsufficiency is the cause of autoinflammatory manifestations in a patient with a deletion of 13Mb on chromosome 6.

Clin Immunol 2018 06 20;191:44-51. Epub 2018 Mar 20.

Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Barcelona, Spain; Pediatric Infectious Diseases and Immunodeficiencies Unit, Hospital Universitari Vall d'Hebron, Infection in Immunocompromised Pediatric Patients, Vall d'Hebron Research Institute (VHIR), Barcelona, Spain; Medicine Department, Universitat Autonoma de Barcelona (UAB), Barcelona, Spain. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15216616183012
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http://dx.doi.org/10.1016/j.clim.2018.03.009DOI Listing
June 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

Lessons from characterization and treatment of the autoinflammatory syndromes.

Curr Opin Rheumatol 2017 03;29(2):187-194

aInflammatory Disease Section, National Human Genome Research Institute, Bethesda, Maryland, USA bNIHR National Institute for Health Research-Leeds Musculoskeletal Biomedical Research Unit (NIHR-LMBRU) and Leeds Institute of Rheumatic and Musculoskeletal Medicine (LIRMM), Wellcome Trust Brenner Building, St. James's University Hospital, Leeds, UK.

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http://dx.doi.org/10.1097/BOR.0000000000000362DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5823535PMC
March 2017

Human adenosine deaminases ADA1 and ADA2 bind to different subsets of immune cells.

Cell Mol Life Sci 2017 02 23;74(3):555-570. Epub 2016 Sep 23.

Guangzhou Women and Children's Medical Center, Guangzhou Institute of Pediatrics, 9 Jinsui Road, Tianhe, Guangzhou, 510623, Guangdong, China.

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http://dx.doi.org/10.1007/s00018-016-2357-0DOI Listing
February 2017

Adenosine deaminase 2 deficiency presenting as spastic paraplegia and systemic vasculitis.

J Neurol 2016 Apr 25;263(4):818-20. Epub 2016 Feb 25.

Medical Genetics Service, Hospital de Clinicas de Porto Alegre, Rua Ramiro Barcelos 2350, Porto Alegre, Zip Code 90.035-903, Brazil.

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http://dx.doi.org/10.1007/s00415-016-8070-yDOI Listing
April 2016

A Case Series of Adenosine Deaminase 2-deficient Patients Emphasizing Treatment and Genotype-phenotype Correlations.

J Rheumatol 2015 Aug;42(8):1532-4

Professor, Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine.

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http://dx.doi.org/10.3899/jrheum.150024DOI Listing
August 2015

Update on genetics and pathogenesis of autoinflammatory diseases: the last 2 years.

Semin Immunopathol 2015 Jul 10;37(4):395-401. Epub 2015 Apr 10.

Inflammatory Disease Section, National Human Genome Research Institute, Bldg. 10/Rm. B2-5235, 10 Center Drive - MSC 1849, Bethesda, MD, 20892-1849, USA,

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http://dx.doi.org/10.1007/s00281-015-0478-4DOI Listing
July 2015

Unexplained early-onset lacunar stroke and inflammatory skin lesions: Consider ADA2 deficiency.

Neurology 2015 May 17;84(20):2092-3. Epub 2015 Apr 17.

From Academic Medical Center (W.F.W., P.J.N., A.E.H.), Amsterdam, the Netherlands; National Institutes of Health (I.A.), National Human Genome Research Institute, Bethesda, MD; and University Medical Center Utrecht (K.D.L., K.P.J.B.), the Netherlands.

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http://dx.doi.org/10.1212/WNL.0000000000001581DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4442100PMC
May 2015

New players driving inflammation in monogenic autoinflammatory diseases.

Nat Rev Rheumatol 2015 Jan 23;11(1):11-20. Epub 2014 Sep 23.

Inflammatory Disease Section, National Human Genome Research Institute, Building 10 Room B2-5235, 10 Center Drive, MSC 1849, Bethesda, MD 20892-1849, USA.

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http://www.nature.com/articles/nrrheum.2014.158
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http://dx.doi.org/10.1038/nrrheum.2014.158DOI Listing
January 2015

Deficiency of interleukin-1 receptor antagonist responsive to anakinra.

Pediatr Dermatol 2013 Nov-Dec;30(6):758-60. Epub 2012 Apr 4.

Division of Pediatrics, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Miami Children's Hospital, Miami, FloridaDivision of Dermatology, Columbia Hospital/Nova Southeastern University, West Palm Beach, FloridaNational Institute of Arthritis, Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MarylandDivision of Rheumatology, Miami Children's Hospital, Miami, Florida.

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http://dx.doi.org/10.1111/j.1525-1470.2012.01725.xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3548019PMC
August 2014

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

Increased activity of interleukin-23/interleukin-17 cytokine axis in primary antiphospholipid syndrome.

Immunobiology 2013 Feb 28;218(2):186-91. Epub 2012 Mar 28.

Medical Center Bezanijska Kosa, University of Belgrade, Belgrade, Serbia.

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http://dx.doi.org/10.1016/j.imbio.2012.03.002DOI Listing
February 2013

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

Defective nuclear IKKα function in patients with ectodermal dysplasia with immune deficiency.

J Clin Invest 2012 Jan 12;122(1):315-26. Epub 2011 Dec 12.

Laboratory of Host Defenses, National Institute of Allergy and Infectious Diseases, NIH, Bethesda, Maryland 20892, USA.

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http://dx.doi.org/10.1172/JCI42534DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3248277PMC
January 2012

Clarithromycin in adult-onset still's disease: a potentially useful therapeutic.

J Clin Rheumatol 2011 Oct;17(7):373-6

Department of Medicine, University of Oklahoma Health Sciences Center, Oklahoma City, OK 73104, USA.

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http://dx.doi.org/10.1097/RHU.0b013e3182320680DOI Listing
October 2011

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

The role of the pro-apoptotic protein Siva in the pathogenesis of Familial Mediterranean fever: A structural and functional analysis.

Biochem Biophys Res Commun 2010 Nov 8;402(1):141-6. Epub 2010 Oct 8.

Laboratory of Molecular Medicine and Human Genetics, Department of Medicine, University of Crete, Heraklion, Greece.

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http://dx.doi.org/10.1016/j.bbrc.2010.10.004DOI Listing
November 2010

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

Chronic urticaria of neonatal onset: a potential sign of autoinflammation.

J Paediatr Child Health 2010 Oct;46(10):608-10

Departments of Allergy and Immunology, The Children's Hospital at Westmead, University of Sydney, Sydney, New South Wales, Australia.

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http://dx.doi.org/10.1111/j.1440-1754.2009.01688.xDOI Listing
October 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

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

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

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

TNF receptor-associated periodic syndrome (TRAPS): description of a novel TNFRSF1A mutation and response to etanercept.

Eur J Pediatr 2008 Dec 12;167(12):1421-5. Epub 2008 Apr 12.

Pediatric Rheumatology Unit, Pediatrics Department, University of São Paulo, Av. Dr. Enéas de Carvalho Aguiar, 647, 05403-900, São Paulo, SP, Brazil.

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http://dx.doi.org/10.1007/s00431-008-0685-2DOI Listing
December 2008

Autoinflammatory diseases: clinical and genetic advances.

Arch Dermatol 2008 Mar;144(3):392-402

Genetic Epidemiology Branch, Division of Cancer Epidemiology and Genetics, National Cancer Institute, 6120 Executive Blvd, Executive Plaza South, Room 7012, Rockville, MD, USA.

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http://dx.doi.org/10.1001/archderm.144.3.392DOI Listing
March 2008

Autoinflammatory diseases: clinical and dermatologic features, genetics, pathogenesis and therapy.

Adv Dermatol 2006 ;22:67-90

Medical Genetics Branch, National Human Genome Research Institute, National Institutes of Health, 9000 Rockville Pike, Bethesda, MD 20892, USA.

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http://dx.doi.org/10.1016/j.yadr.2006.09.007DOI Listing
February 2007

Neutrophil chemotaxis in a patient with neonatal-onset multisystem inflammatory disease and Muckle-Wells syndrome.

Ann Allergy Asthma Immunol 2005 Oct;95(4):394-9

Department of Pediatrics, University of Wisconsin Medical School, Madison, Wisconsin 53706, USA.

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http://dx.doi.org/10.1016/S1081-1206(10)61159-3DOI Listing
October 2005

Favorable preliminary experience with etanercept in two patients with the hyperimmunoglobulinemia D and periodic fever syndrome.

Arthritis Rheum 2003 Sep;48(9):2645-51

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/10.1002/art.11218DOI Listing
September 2003

The expanding spectrum of systemic autoinflammatory disorders and their rheumatic manifestations.

Curr Opin Rheumatol 2003 Jan;15(1):61-9

Office of the Clinical Director, 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/10.1097/00002281-200301000-00011DOI Listing
January 2003

The autoinflammatory syndromes.

Curr Opin Allergy Clin Immunol 2002 Dec;2(6):511-6

aUnit of Molecular Medicine, Department of Diabetes and Metabolic Medicine, Barts and the London, Queen Mary School of Medicine and Dentistry, University of London, London, UK.

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http://dx.doi.org/10.1097/00130832-200212000-00006DOI Listing
December 2002

The TNF receptor-associated periodic syndrome (TRAPS): emerging concepts of an autoinflammatory disorder.

Medicine (Baltimore) 2002 Sep;81(5):349-68

Office of the Clinical Director, 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/10.1097/00005792-200209000-00002DOI Listing
September 2002