Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 052 • 2023 Pediatric Rheumatology Symposium
Extreme Periodic Fever, Aphthous Stomatitis, Pharyngitis, Adenitis (PFAPA): A Discrete Group of Patients
Yoel Levinsky¹, Rotem Tal², Liora Harel², Shoval Shoham³, Sabreen Abu Ahmad⁴, Yonatan Butbul Aviel⁵, Gil Amarilyo² and Mor Broide³, ¹Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ²Pediatric rheumatology clinic, Schneider children's medical center of Israel, Petach Tikva, Israel, ³Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁴Ruth Rappaport Children's Hospital, Rambam Health Care, Haifa, Israel, ⁵Rambam Medical center, Haifa, Israel
Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis, and cervical adenitis (PFAPA) syndrome is the most common periodic fever syndrome in children; by definition, episodes occur every…
Abstract Number: 053 • 2023 Pediatric Rheumatology Symposium
Can Children with Colchicine Resistant FMF Be Treated with on Demand Canakinumab Regimen?– a Multicenter Study
Katy shehadeh¹, Yoel Levinsky², rotem tal³, Neta Hana Aviran³, Yonatan Butbul Aviel⁴, Irit Tirosh⁵, Shelly Kagan⁶, Tarek Zoabi³, Shiri Spielman⁷, Adi Miller-Barmak⁴, Rotem Semo Oz⁸, Liora Harel⁹, Gabriel Chodick¹⁰ and Gil Amarilyo⁶, ¹Tel Aviv University, Tel Aviv, Israel, ²Schneider Children's Medical Center of Israel, Tel Aviv University, Petach Tikva, Israel, ³Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁴Rambam Medical center, Haifa, Israel, ⁵Sheba Medical Center, Savyon, Israel, ⁶Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁷Sheba Tel-HaShomer Medical Center, Givataim, Israel, ⁸Sheba medical center, Herzelyia, Israel, ⁹Scheiders Children Medical Center of Israel, Petah-Tiqva, Israel, ¹⁰Maccabitech institute for research and innovation, Maccabi healthcare services, Tel Aviv, Israel
Background/Purpose: Familial Mediterranean fever (FMF) is the most common autoinflammatory disease. Without therapy, it may lead to the development of secondary amyloidosis. Treatment with colchicine…
Abstract Number: 026 • 2020 Pediatric Rheumatology Symposium
Allogeneic Hematopoietic Cell Transplantation (HCT) in the National Institutes of Health (NIH)’s Deficiency of Adenosine Deaminase 2 (DADA2) Patient Cohort
Michele Nehrebecky¹, Jennifer Kanakry ¹, Dimana Dimitrova ¹, Deborah Stone ¹, Patrycja Hoffmann ², Tina Romeo ¹, Anne Jones ³, Karyl Barron ⁴ and Amanda Ombrello ⁵, ¹NIH, Bethesda, ²NIH, Vienna, ³Bethesda, ⁴National Institutes of Health, Bethesda, ⁵National Human Genome Research Institute/National Institutes of Health, Bethesda
Background/Purpose: The deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive autoinflammatory disease caused by biallelic mutations in ADA2. The diagnosis of DADA2 is…
Abstract Number: 027 • 2020 Pediatric Rheumatology Symposium
Clinical Features and Outcomes in Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature (CANDLE) Syndrome: Before and After JAK-inhibition
Sofia Torreggiani¹, Pascal Pillet ², Fabiano de Oliveira Poswar ³, Anna Kozlova ⁴, Anna Shcherbina ⁴, Marietta De Guzman ⁵, Jacob Mitchell ⁶, Gina A. Montealegre Sanchez ⁷, Katherine Townsend ⁸, Kim Johnson ⁹, Adriana Almeida de Jesus ¹⁰ and Raphaela Goldbach-Mansky ¹¹, ¹National Institutes of Health, Bethesda, ²Bordeaux Cedex, France, ³Hospital de Clinicas de Porto Alegre, Porto Alegre, Brazil, ⁴Center for Pediatric Hematology, Oncology, Immunology, Moscow, Russia, ⁵Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas, ⁶NIAID, NIH, Bethesda, ⁷NIH/ NIAID, Rockville, ⁸NIH, ⁹NIH, NIAID, Bethesda, ¹⁰NIAID, NIH, Silver Spring, ¹¹NIH/NIAID, Potomac
Background/Purpose: Chronic Atypical Neutrophilic Dermatosis With Lipodystrophy And Elevated Temperature (CANDLE) Syndrome is an autoinflammatory interferonopathy caused by mutations in the genes encoding for components…
Abstract Number: 041 • 2020 Pediatric Rheumatology Symposium
Ancestry, Demographic and Clinical Features of Israeli Periodic Fever Aphthous Stomatitis, Pharyngitis and Adenitis (PFAPA) Syndrome – a Multi-center Cohort
Gil Amarilyo¹, Liora Harel ², Sabreen Abu Ahmad ³, Maryam Abu Rumi ³, Riva Brik ⁴, Nofar Hezkelo ⁵, Orly Ohana ⁶, Yoel Levinsky ⁷, Gabriel Chodick ⁵ and Yonatan Butbul Aviel ⁸, ¹Schneider Hospital, Tel Aviv University, Kibbutz Magal, Israel, ²Schneider Hospital, Tel Aviv University, Petah-Tiqva, Israel, ³Ruth Rappaport Children's Hospital, Rambam Medical Center, Haifa, Israel, ⁴Haifa, Israel, ⁵Sackler Faculty of Medicine, Tel Aviv University, Ramat Aviv, Israel, Tel Aviv, Israel, ⁶Schneider Children's Medical Cener of Israel, Petach Tikva, Israel, ⁷Schneider Children's Medical Cnetr of Israel, Tel Aviv University, Petach Tikva, Israel, ⁸Rambam Medical center, Haifa, Hefa, Israel
Background/Purpose: Periodic fever, aphthous stomatitis, pharyngitis and adenitis (PFAPA) syndrome is an autoinflammatory disease of unknown etiology. Recently, we showed that there may be a…
Abstract Number: 059 • 2020 Pediatric Rheumatology Symposium
Challenges Faced by Families of Children with an Auto-inflammatory Disease
Lori Tucker¹, Maria Belen ², Jenny Tekano ², Iwona Niemietz ³, Martina Sundqvist ³ and Kelly Brown ³, ¹BC Children's Hospital, Vancouver, British Columbia, Canada, ²BC CHildren's Hospital, Vancouver, Canada, ³BC Children's Hospital Research Institute, Vancouver, Canada
Background/Purpose: Auto-inflammatory diseases (AIDs) are rare disorders that usually present in young children. Disease episodes, characterized by recurrent inflammation, are often frequent and unpredictable, and…
Abstract Number: 080 • 2020 Pediatric Rheumatology Symposium
Therapeutic Interferon Gamma Neutralization with Emapalumab in Patients with NRLC4- and CDC42-Associated Diseases Characterized by Recurrent and Severe Hemophagocytic Lymphohistiocytosis
Claudia Bracaglia¹, Antonella Insalaco ¹, Giulia Marucci ¹, Manuela Pardeo ¹, Emanuela Sacco ¹, Virginia Messia ¹, Giusi Prencipe ¹, Ivan Caiello ¹, Sarka Fingerhutova ², Pavla Dolezalova ², Veronica Asnaghi ³, Maria Ballabio ³, Cristina de Min ³ and Fabrizio De Benedetti ¹, ¹Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Rome, Italy, ²Paediatric Rheumatology and Autoinflammatory Diseases Unit, General University Hospital, Prague, Czech Republic, ³Swedish Orphan Biovitrum AG (Sobi), Basel, Switzerland
Background/Purpose: Interferon gamma (IFNγ) is a pivotal mediator of HLH. Emapalumab (a fully human anti-IFNγ monoclonal antibody) is efficacious in patients with primary HLH. In…
Abstract Number: 087 • 2020 Pediatric Rheumatology Symposium
Standardizing Care and Fostering Systemic Autoinflammatory Disease (SAID) Research Through the CARRA Autoinflammatory Disease Network
Grant Schulert¹, Julie Cherian ², Theresa Wampler Muskardin ³, Marinka Twilt ⁴, Shoghik Akoghlanian ⁵, Gil Amarilyo ⁶, Dilan Dissanayake ⁷, Karen Durrant ⁸, Polly Ferguson ⁹, Maria Gutierrez ¹⁰, Liora Harel ¹¹, Jonathan Hausmann ¹², Merav Heshin Bekenstein ¹³, Ronald Laxer ⁷, Aleksander Lenert ⁹, Suzanne Li ¹⁴, Greg Licameli ¹⁵, Geraldina Lionetti ¹⁶, Ian Michelow ¹⁷, Lakshmi Moorthy ¹⁸, Evan Propst ¹⁹, Vivian Saper ²⁰, Hemalatha Srinivasalu ²¹, Yuriy Stepanovskiy ²², Akaluck Thatayatikom ²³, Lori Tucker ²⁴, Peter Wright ²⁵, Cagri Yildirim-Toruner ⁵, Fatma Dedeoglu ¹⁵ and Sivia Lapidus ²⁶ for the CARRA investigators, ¹Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, ²Stony Brook Children's Hospital, Stony Brook, ³Colton Center for Autoimmunity, NYU School of Medicine, New York, ⁴Alberta Children's Hospital, Calgary, Canada, ⁵Nationwide Children's Hospital, Columbus, ⁶Schneider Hospital, Tel Aviv University, Kibbutz Magal, Israel, ⁷The Hospital for Sick Children and University of Toronto, Toronto, Canada, ⁸Kaiser Permanente San Francisco Medical Center and Autoinflammatory Alliance, San Francisco, ⁹University of Iowa Carver College of Medicine, Iowa City, ¹⁰Johns Hopkins University School of Medicine, Baltimore, ¹¹Schneider Hospital, Tel Aviv University, Petah-Tiqva, Israel, ¹²Division of Immunology, Boston Children's Hospital; Rheumatology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, ¹³Dana Children’s Hospital of Tel Aviv Medical Center, Binyamina, Israel, ¹⁴Joseph M. Sanzari Children's Hospital Hackensack Meridian Health, Hackensack, ¹⁵Boston Children's Hospital, Boston, ¹⁶UCSF Benioff Children’s Hospital, Oakland, ¹⁷Alpert Medical School, Brown University, Providence, ¹⁸Rutgers Robert Wood Johnson Medical School, Metuchen, ¹⁹The Hospital for Sick Children, University of Toronto, Toronto, Canada, ²⁰Stanford University, Los Altos, ²¹Children's National Medical Center, Washington, ²²Shupyk National Medical Academy of Postgraduate Education, Kiev, ²³University of Florida, Gainesville, ²⁴BC Children's Hospital, Vancouver, British Columbia, Canada, ²⁵Dartmouth-Hitchcock Medical Center, Lebanon, ²⁶The Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Maplewood
Background/Purpose: International registries have significantly enhanced the understanding of the genetics, phenotype, prognosis, and treatment of Systemic Autoinflammatory Diseases (SAIDs) that could be further augmented…
Abstract Number: 104 • 2020 Pediatric Rheumatology Symposium
Patients Perspectives on Living with a Systemic Autoinflammatory Disease: Impact on Quality of Life
Mariana Correia Marques¹, Nicole Tennermann ², Sivia Lapidus ³, Grant Schulert ⁴, Jennifer Tousseau ², Rashmi Sinha ⁵, Karen Durrant ⁶, Saskya Angevare ⁷ and Fatma Dedeoglu ⁸, ¹Boston Children's Hospital, Boston, Massachusetts, ², ³The Joseph M. Sanzari Children's Hospital, Hackensack Meridian Health, Maplewood, ⁴Cincinnati Children's Hospital Medical Center and University of Cincinnati College of Medicine, Cincinnati, ⁵Systemic JIA Foundation, Cincinnati, ⁶Autoinflammatory Alliance, San Francisco, ⁷Amersfoort, Netherlands, ⁸Boston Children's Hospital, Boston
Background/Purpose: Systemic autoinflammatory diseases (SAIDs) encompass multiple clinical entities in which spontaneous inflammation occurs due to dysregulation of the innate immune response. The variability in…
Abstract Number: 1254 • 2019 ACR/ARP Annual Meeting
A Retrospective Medical Chart Review of Patients with Periodic Fever Syndromes Initiating Canakinumab in the United States
Peter Hur¹, Kathleen G. Lomax ¹, Raluca Ionescu-Ittu ², Ameur M. Manceur ², Jipan Xie ³, Jordan Cammarota ⁴, Navneet Sanghera ⁵ and Alexei A. Grom ⁶, ¹Novartis Pharmaceuticals Corporation, East Hanover, NJ, ²Analysis Group, Inc., Montreal, QC, Canada, ³Analysis Group, Inc., Los Angeles, CA, ⁴Analysis Group Inc.,, Washington, DC, ⁵Novartis Pharmaceuticals Corporations, East Hanover, NJ, ⁶Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Periodic fever syndromes (PFS) is a group of rare autoinflammatory diseases that includes cryopyrin-associated periodic syndromes (CAPS), hyperimmunoglobulin D syndrome/mevalonate kinase deficiency (HIDS/MKD), TNF…
Abstract Number: 1266 • 2019 ACR/ARP Annual Meeting
AGBL3 as a Novel Gene Associated with Hereditary Hypocomplementemic Urticarial Vasculitis and Favorable Response to Rituximab
Ahmet Gul¹, Nesllihan Abaci ² and Sema Sirma-Ekmekci ², ¹Department of Internal Medicine, Division of Rheumatology, Istanbul University, Istanbul Faculty of Medicine, Istanbul, Turkey, Istanbul, Turkey, ²Department of Genetics, Istanbul University Institute for Experimental Medical Research, Istanbul, Turkey, Istanbul, Turkey
Background/Purpose: Urticarial skin lesions are well-known features of autoinflammatory disorders associated with NLRP3 and NLRP12 variants. However hereditary forms of hypocomplementemic urticarial vasculitis (HUV) with…
Abstract Number: 1768 • 2019 ACR/ARP Annual Meeting
A First-in-class Selective and Potent IRAK4 Degrader Demonstrates Robust in Vitro and in Vivo Inhibition of TLR/IL-1R Activation and Inflammation
Veronica Campbell¹, Joseph Kelleher ¹, Jesse Chen ¹, Jared Gollob ², Nan Ji ², Christine Klaus ², Christine Loh ², Michelle mayo ², Alice McDonald ², Haojing Rong ², Scott Rusin ², Kirti Sharma ², Matt Weiss ², Karen Yuan ², Duncan Walker ², Xiaozhang Zheng ², Anthony Slavin ² and Nello Mainolfi ², ¹Kymera Therapeutics, cambridge, MA, ²Kymera Therapeutics, Cambridge
Background/Purpose: IL-1R/TLR activation plays a central role in the pathophysiology of multiple autoimmune and inflammatory diseases driven by the IL-1 family of cytokines and by…
Abstract Number: 2156 • 2019 ACR/ARP Annual Meeting
Expanding the Phenotypic and Genotypic Spectrum in Yao Syndrome
Qingping Yao¹ and Apostolos Kontzias ¹, ¹Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321), formerly termed nucleotide-binding, oligomerization domain 2(NOD2)-associated autoinflammatory disease, has become increasingly recognized. The disease has been reported in America,…
Abstract Number: 2698 • 2019 ACR/ARP Annual Meeting
Reasons for Initiation of Canakinumab of Patients with Systemic Juvenile Idiopathic Arthritis: A Retrospective Medical Chart Review from the United States
Peter Hur¹, Raluca Ionescu-Ittu ², Ameur M. Manceur ², Kathleen G. Lomax ¹, Jordan Cammarota ³, Jipan Xie ⁴, Navneet Sanghera ⁵ and Alexei A. Grom ⁶, ¹Novartis Pharmaceuticals Corporation, East Hanover, NJ, ²Analysis Group, Inc., Montreal, QC, Canada, ³Analysis Group Inc.,, Washington, DC, ⁴Analysis Group, Inc., Los Angeles, CA, ⁵Novartis Pharmaceuticals Corporations, East Hanover, NJ, ⁶Division of Rheumatology, Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) is a rare autoinflammatory disease characterized by fever and arthritis, often accompanied by rash. Canakinumab (CAN) was approved in…
Abstract Number: 2903 • 2019 ACR/ARP Annual Meeting
Cryopyrin-Associated Periodic Syndrome Treated with Canakinumab – Long-Term Follow-up Data Documents Sustained Safety and Remission
Jasmin Kuemmerle-Deschner¹, Norbert Blank ², Michael Borte ³, Ivan Foeldvari ⁴, Gerd Horneff ⁵, Prasad Thomas Oommen ⁶, Catharina Schuetz ⁷, Frank Weller-Heinemann ⁸, Julia Weber-Arden ⁹ and Tilmann Kallinich ¹⁰, ¹University Hospital Tuebingen, Pediatric Department, Tuebingen, Germany, ²Rheumatology, University Hospital Heidelberg, Germany, Heidelberg, Germany, ³3ImmunoDeficiencyCenter Leipzig (IDCL), Hospital St. Georg gGmbH Leipzig, Germany, Leipzig, Germany, ⁴Hamburg Centre for Pediatric and Adolescence Rheumatology, Hamburg, Germany, ⁵Asklepios Clinic Sankt Augustin, Sankt Augustin, Germany, ⁶Clinic of Pediatric Hematology, Oncology and Clinical Immunology, Heinrich-Heine-University Düsseldorf, Duesseldorrf, Germany, ⁷Department of Pediatrics, Medical Faculty Carl Gustav Carus, Technical University Dresden, Dresden, Germany, Dreaden, Germany, ⁸Prof. Hess Kinderklinik, Bremen, Germany, Bremen, Germany, ⁹Novartis Pharma GmbH Germany, Nuremberg, Germany, ¹⁰Charite, Berlin, Germany
Background/Purpose: Targeting the interleukin(IL)-1 pathway with anti-IL-1 drugs is a treatment option in patients with autoinflammatory diseases like monogenic periodic fever syndromes. The study aims…

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