Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 2423 • 2016 ACR/ARHP Annual Meeting
Differential Interferon Score Expression in the Peripheral Blood in Mendelian Inflammatory Interferonopathies Versus Juvenile Dermatomyositis (JDM) Subtyped By Myositis Autoantibodies and Disease Activity
Hanna Kim¹, Terrance P. O'Hanlon², Adriana Almeida de Jesus³, Yan Huang³, Ira N. Targoff^4,5, Frederick W. Miller², Raphaela Goldbach-Mansky⁶ and Lisa G. Rider², ¹NIAMS/NIH, Bethesda, MD, ²Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ³National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵University of Oklahoma, Oklahoma City, OK, ⁶Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: JDM is a complex autoimmune disease with an interferon (IFN) signature, with a reported correlation with disease activity. Clinical features vary among myositis-specific autoantibody…
Abstract Number: 2429 • 2016 ACR/ARHP Annual Meeting
Mechanisms for the Development of Lung Fibrosis in Sting-Associated Vasculopathy with Onset in Infancy (SAVI)
Adriana Almeida de Jesus¹, Louise Malle¹, Dan Yang², Bernadette Marrero¹, Yin Liu³, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle⁴, Hanna Kim⁴, Michelle O'Brien⁴, Gregor Dueckers⁵, Suzanne Ramsey⁶, Joseph R. Fontana⁷, Steven M. Holland⁸, Yan Huang¹, Suvimol Hill⁹, Laisa Santiago¹⁰, Benito Gonzalez¹¹, Paul Brogan¹², Juergen Brunner¹³, Ebun Omoyinmi¹⁴, Athimalaipet V Ramanan¹⁵, Amy Paller¹⁶, Olcay Y. Jones¹⁷, Seza Ozen¹⁸, Stephen Brooks⁴, Zuoming Deng⁴, Manfred Boehm¹⁹, Raphaela Goldbach-Mansky²⁰ and Helmut Wittkowski²¹, ¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, ³Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ⁴NIAMS/NIH, Bethesda, MD, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁷Cardiovascular and Pulmonary Branch, NHLBI, NIH, Bethesda, MD, ⁸Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ⁹Radiology Department, Clinical Center, NIH, Bethesda, MD, ¹⁰Johns Hopkins All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹¹Luis Calvo Mackenna Hospital, Santiago, Chile, ¹²UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹³Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria, ¹⁴University College London Institute of Child Health, London, United Kingdom, ¹⁵University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom, ¹⁶Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ¹⁷Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD, ¹⁸Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, ANKARA, Turkey, ¹⁹Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, ²⁰Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²¹Department of Pediatric Rheumatology and Immunology, University Hospital of Muenster, Münster, Germany
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is a monogenic autoinflammatory interferonopathy caused by gain-of-function mutations in TMEM173/STING, a nucleic acid sensor adaptor linked…
Abstract Number: 2430 • 2016 ACR/ARHP Annual Meeting
Mutations in the Tyrosine-Protein Kinase Lyn Cause an Early-Onset Neutrophilic Vasculitis Syndrome
Adriana Almeida de Jesus¹, Gina A. Montealegre¹, Helen Freeman², Neil Martin³, Ebun Omoyinmi⁴, Bernadette Marrero¹, Katherine R. Calvo⁵, Chyi-Chia Richard Lee⁶, April D. Brundidge⁷, David Kleiner⁸, Stephen Hewitt⁸, Dawn C. Chapelle⁷, Yan Huang¹, Nirali Shah⁸, Stephen Brooks⁷, Eric Meffre⁹, Paul Brogan¹⁰, Hyesun Kuehn¹¹, Sergio Rosenzweig¹², Melinda Merchant⁸, Zuoming Deng⁷, Susan Moir¹³ and Raphaela Goldbach-Mansky¹⁴, ¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²Raigmore Hospital, Inverness, United Kingdom, ³Royal Hospital for Children, Glasgow, United Kingdom, ⁴University College London Institute of Child Health, London, United Kingdom, ⁵Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD, ⁶Dermatopathology Section, Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, ⁷NIAMS/NIH, Bethesda, MD, ⁸National Cancer Institute, NIH, Bethesda, MD, ⁹Department of Immunobiology, Yale University School of Medicine, New Haven, CT, ¹⁰UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹¹Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, ¹²Department of Laboratory Medicine/NIH, Bethesda, MD, ¹³National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁴Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Tyrosine-protein kinase Lyn is a Src-family tyrosine kinase expressed by hematopoietic and non-hematopoietic cell types. Phosphorylation of a tyrosine residue at position 508 renders…
Abstract Number: 2433 • 2015 ACR/ARHP Annual Meeting
Anti Interferon-Gamma (IFNg) Monoclonal Antibody Treatment in a Child with NLRC4-Related Disease and Severe Hemophagocytic Lymphohistiocytosis (HLH)
Claudia Bracaglia¹, Giusi Prencipe¹, Antonio Gatto², Manuela Pardeo¹, Geneviève Lapeyre³, Luigi Raganelli¹, Emiliano Marasco², Antonella Insalaco², Walter Ferlin³, Robert Nelson³, Cristina de Min³ and Fabrizio De Benedetti¹, ¹Department of Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ²Pediatric Medicine, Division of Rheumatology, Ospedale Pediatrico Bambino Gesù, IRCCS, Rome, Italy, ³NovImmune S.A., Geneva, Switzerland
Background/Purpose: Animal and humans data suggest that IFNγ plays a pathogenic role in HLH. A pilot trial in primary HLH with NI-0501, an anti-IFNγ monoclonal…
Abstract Number: 2465 • 2015 ACR/ARHP Annual Meeting
Cytokine Profile Comparison of Monogenic and Complex Conditions with Interferon-Regulated Gene Signatures in Chronic Atypical Neutrophilic Dermatosis with Lipodsytrophy and Elevated Temperature (CANDLE), SAVI, Aicardi-Goutieres Syndrome, JDM, and SLE
Hanna Kim¹, Yin Liu², Adriana Almeida de Jesus¹, Robert Wesley³, Yan Huang¹, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Wanxia L. Tsai⁴, Massimo G. Gadina⁴, Frederick W. Miller⁵, Sarfaraz Hasni⁶, Adeline Vanderver⁷, Lisa G Rider⁵ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Clinical Center, National Institutes of Health, Bethesda, MD, ⁴Translational Immunology Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, NIH, Bethesda, MD, ⁵Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD, ⁷Pediatric Neurology, Children's National Medical Center, Washington, DC
Background/Purpose: An Interferon (IFN) Regulated Gene Signature (IRS) was previously reported in patients with two complex autoimmune diseases, juvenile systemic lupus (JSLE)1 and juvenile dermatomyositis…
Abstract Number: 3093 • 2015 ACR/ARHP Annual Meeting
Development and Validation of Diagnostic Criteria for Cryopyrin Associated Periodic Syndromes
Jasmin B. Kuemmerle-Deschner¹, Seza Ozen², Pascal N. Tyrrell³, Isabelle Koné-Paut⁴, Raphaela Goldbach-Mansky⁵, Helen Lachmann⁶, Norbert Blank⁷, Hal M. Hoffman⁸, Elisabeth Weissbarth-Riedel⁹, Boris Huegle¹⁰, Tilmann Kallinich¹¹, Marco Gattorno¹², Ahmet Gul¹³, Nienke M. ter Haar¹⁴, Marlen Oswald¹⁵, Fatma Dedeoglu¹⁶ and Susanne M. Benseler¹⁷, ¹Universitätsklinikum Tübingen, Klinik fuer Kinder- und Jugendmedizin, Tübingen, Germany, ²Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ³Department of Medical Imaging, University of Toronto, Toronto, ON, Canada, ⁴Pediatrics Rheumatology, CHU Bicêtre, Le Kremlin Bicêtre, France, ⁵Bldg10 rooom 6D47-B, NIH | NIAMS, Bethesda, MD, ⁶UK National Amyloidosis Centre, University College London Medical School, London, United Kingdom, ⁷Med 5-Rheumatology, University of Heidelberg, Heidelberg, Germany, ⁸University of California at San Diego, San Diego, CA, ⁹Rheumatology, Pediatrics, Universitaetskinderklinik Hamburg, Hamburg, Germany, ¹⁰Pediatric Rheumatology, German Center for Pediatric and Adolescent Rheumatology, Garmisch-Partenkirchen, Germany, ¹¹Charite, University Medicine Berlin, Berlin, Germany, ¹²Pediatry, G. Gaslini Institute, Genova, Italy, ¹³Department of Internal Medicine, Rheumatology Division, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, ¹⁴Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ¹⁵University Hospital Tuebingen, Tuebingen, Germany, ¹⁶Division of Immunology, Boston Children's Hospital, Boston, MA, ¹⁷Rheumatology, Alberta Children's Hospital, University of Calgary, Calgary, AB, Canada
Background/Purpose: Cryopyrin Associated Periodic Syndromes (CAPS) are a rare, clinically heterogeneous group of devastating inflammatory illnesses. NLRP3gene gain-of function mutations result in unceasingly raised IL1…
Abstract Number: 3094 • 2015 ACR/ARHP Annual Meeting
Dose Adjustment of Anakinra (Kineret®) Based on Clinical Response in Patients with Severe Cryopyrin-Associated Periodic Syndromes
Bengt Hallen¹, Torbjörn Kullenberg¹, Mika Leinonen², Margareta Wiken¹, Raphaela Goldbach-Mansky³ and Hans Olivecrona¹, ¹Swedish Orphan Biovitrum, Stockholm, Sweden, ²4Pharma AB, Stockholm, Sweden, ³Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD
Background/Purpose: Cryopyrin-Associated Periodic Syndromes (CAPS) include a group of rare inherited autoinflammatory diseases consisting of Familial Cold Autoinflammatory Syndrome (FCAS), Muckle-Wells Syndrome and the most…
Abstract Number: 112 • 2015 ACR/ARHP Annual Meeting
The Molecular Genetic Analysis of the Autoinflammatory Syndromes in Russian Patients with Manifestation of Systemic Juvenile Idiopathic Arthritis
Ekaterina Alexeeva¹, Alexander Baranov², Kirill Savostyanov², Alexander Pushkov², Tatyana Sleptsova¹, Tatyana Bzarova¹, Saniya Valieva¹, Rina Denisova¹, Kseniya Isayeva¹, Evgeniya Chistyakova¹ and Chomahidze Alexandra¹, ¹Rheumatology, Scientific Center of Children's Health, Moscow, Russia, ²Scientific Center of Children's Health, Moscow, Russia
Background/Purpose: Group of monogenic autoinflammatory syndromes is characterized by recurrent episodes of fever and inflammation. Methods: The study included 90 pts (37 boys, 63 girls)…
Abstract Number: 246 • 2015 ACR/ARHP Annual Meeting
Adult Autoinflammatory Disease Frequency and Our Diagnostic Experience in an Adult Autoinflammatory Clinic
Qingping Yao¹, Felicitas Lacbawan² and Jianbo Li¹, ¹Cleveland Clinic, Cleveland, OH, ²Molecular Genetics Pathology, Cleveland Clinic, Cleveland, OH
Background/Purpose: Autoinflammatory diseases (AIDs), aka, periodic fever syndromes include monogenic diseases, such as familial Mediterranean fever (FMF), cryopyrin-associated periodic disease (CAPS), tumor necrosis factor receptor-associated…
Abstract Number: 248 • 2015 ACR/ARHP Annual Meeting
Efficacy and Safety of Canakinumab in Patients with CAPS Aged <24 Months: Results from an Open-Label, Multicenter, Phase III Trial
Paul Brogan¹, Michaël Hofer², Jasmin B. Kuemmerle-Deschner³, Bernard R. Lauwerys⁴, Antonio Speziale⁵, K. Abrams⁶, Karolynn Leon⁷, Xiaoling Wei⁸ and Ronald Laxer⁹, ¹Department of Paediatric Rheumatology, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²Unité Romande de Rhumatologie Pédiatrique, Hospitalier Universitaire Vaudois, Lausanne, Switzerland, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium, ⁵Novartis Pharma AG, Basel, Switzerland, ⁶Novartis Pharmaceutical Corporation, East Hanover, NJ, ⁷Novartis Pharmaceuticals Corporation, East Hanover, NJ, ⁸Novartis Pharma, Beijing, NU, China, ⁹University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Canakinumab (CAN) is indicated for the treatment of cryopyrin-associated periodic syndrome (CAPS) in patients aged ≥2 years.1,2 However, the efficacy of CAN has not…
Abstract Number: 250 • 2015 ACR/ARHP Annual Meeting
Postvaccination Antibody Titer Data in CAPS Patients Aged 28 Days to 4 Years Treated with Canakinumab: Results of an Open-Label Phase 3 Trial
Paul Brogan¹, Michaël Hofer², Jasmin B. Kuemmerle-Deschner³, Bernard R. Lauwerys⁴, Antonio Speziale⁵, Ken Abrams⁶, Karolynn Leon⁶, Xiaoling Wei⁷ and Ronald Laxer⁸, ¹Department of Paediatric Rheumatology, UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ²Unité Romande de Rhumatologie Pédiatrique, Hospitalier Universitaire Vaudois, Lausanne, Switzerland, ³University Hospital Tuebingen, Tuebingen, Germany, ⁴Cliniques Universitaires Saint-Luc and Université Catholique de Louvain, Brussels, Belgium, ⁵Novartis Pharma AG, Basel, Switzerland, ⁶Novartis Pharmaceuticals Corporation, East Hanover, NJ, ⁷Novartis Pharma, Beijing, NU, China, ⁸University of Toronto, The Hospital for Sick Children, Toronto, ON, Canada
Background/Purpose: Patients with autoinflammatory diseases treated with immunosuppressive agents reportedly experience an increased risk of serious infections.1 Therefore, these patients are likely candidates for vaccinations,…
Abstract Number: 252 • 2015 ACR/ARHP Annual Meeting
Pyrin (MEFV) Mutations in New York: Revisiting the Mount Sinai Experience with Periodic Fever and Serositis
Daniel Bunker and Mark Matza, Medicine, Mount Sinai Medical Center, New York, NY
Background/Purpose: In 1945, Dr. Sheppard Siegel, a Mount Sinai allergist, described 5 patients with “Benign Paroxysmal Peritonitis,” a disorder now recognized as Familial Mediterranean Fever…
Abstract Number: 937 • 2015 ACR/ARHP Annual Meeting
Safety and Efficacy of Canakinumab in Patients with CAPS: Interim Results from the Beta-Confident Registry
Jasmin B. Kuemmerle-Deschner¹, Hal M. Hoffman², Philip N. Hawkins³, T. van der Poll⁴, Ulrich A. Walker⁵, Antonio Speziale⁶ and Hugh H. Tilson⁷, ¹University Hospital Tuebingen, Tuebingen, Germany, ²Division of Rheumatology, Allergy, and Immunology, University of California at San Deigo, La Jolla, CA, ³University College London Medical School, London, United Kingdom, ⁴Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands, ⁵Rheumatology, University Hospital, Basel, Basel, Switzerland, ⁶Novartis Pharma AG, Basel, Switzerland, ⁷University of North Carolina, Gillings School of Global Public Health, Chapel Hill, NC
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS), is a rare autoinflammatory disease encompassing a spectrum of 3 phenotypes with an estimated population frequency ranging from 1-3 per…
Abstract Number: 1025 • 2015 ACR/ARHP Annual Meeting
Interstitial Lung Disease in Sting-Associated Vasculopathy with Onset in Infancy (SAVI): Genotype-Phenotype Correlation
Louise Malle¹, Bernadette Marrero¹, Yin Liu², Gina A. Montealegre Sanchez¹, Dawn C. Chapelle¹, Hanna Kim^1,3, Michelle O'Brien¹, Suzanne Ramsey⁴, Gregor Dueckers⁵, Seza Ozen^6,7, Helmut Wittkowski⁸, Dirk Föll⁹, Klaus Tenbrock¹⁰, Olcay Y. Jones¹¹, Steven M. Holland¹², Joseph Fontana¹³, Yan Huang¹, Benito Gonzalez¹⁴, Paul Brogan¹⁵, Juergen Brunner¹⁶, Athimalaipet V Ramanan¹⁷, Tom Hilliard¹⁷, Laisa Santiago¹⁸, AnneMarie Brescia¹⁹, Amy Paller²⁰, Stephen Brooks²¹, Zuoming Deng²², Adriana Almeida de Jesus¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Diseases Section, NIAMS, NIH, Bethesda, MD, ²Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ³Pediatric Rheumatology, Alfred I duPont Hospital for Children, Wilmington, DE, ⁴Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Paediatric Rheumatology International Trials Organization (PRINTO), Istituto Giannina Gaslini, Genova, Italy, ⁷Pediatric Nephrology and Rheumatology, Hacettepe University, Ankara, Turkey, Ankara, Turkey, ⁸Pediatrics, University of Muenster, Muenster, Germany, ⁹University of Muenster, Muenster, Germany, ¹⁰University Aachen, Aachen, Germany, ¹¹Rheumatology, George Washington University, Washington, DC, ¹²Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ¹³NHLBI, NIH, Bethesda, MD, ¹⁴Luis Calvo Mackenna Hospital, Santiago, Chile, ¹⁵UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹⁶Universitätsklinik für Kinder- u. Jugendheilkunde, Innsbruck, Austria, ¹⁷Bristol Royal Hospital for Children, Bristol, United Kingdom, ¹⁸All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹⁹Jefferson Medical College/ A.I. Dupont Hospital for Children, Willmington, DE, ²⁰Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ²¹NIAMS/NIH, Bethesda, MD, ²²Biodata Mining & Discovery, NIAMS/NIH, Bethesda, MD
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is an IFN-mediated disease caused by gain-of-function mutations in TMEM173, the gene encoding the stimulator of interferon…
Abstract Number: 1360 • 2015 ACR/ARHP Annual Meeting
Functional Consequences of NOD2 Gene Variants in Patients with NOD2-Associated Autoinflammatory Disease
Christine McDonald¹, Min Shen¹, Amrita Kabi¹, Craig Homer¹ and Qingping Yao², ¹Cleveland Clinic, Cleveland, OH, ²Rheumatic and Immunologic Dis, Cleveland Clinic, Cleveland, OH
Background/Purpose: Yao Syndrome (YS) is a systemic autoinflammatory disease formerly termed Nucleotide-binding oligomerization domain 2 (NOD2)-associated AutoInflammatory Disease (NAID) due to its association with specific…

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