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: 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: 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: 772 • 2019 ACR/ARP Annual Meeting
The Study of the Novel G87V Mutation in the TNFRSF1A Gene Identified in a Family with TNF Receptor-Associated Periodic Syndrome (TRAPS)
Shoko Tsuji¹, Hidenori Matsuzaki ², Masanori Iseki ³, Akiko Nagasu ¹, Hiroyasu Hirano ¹, Katsuhiko Ishihara ⁴, Naoyasu Ueda ⁵, Yoshitaka Honda ⁶, Takahiko Horiuchi ⁷, Ryuta Nishikomori ⁸, Yoshitaka Morita ¹ and Tomoyuki Mukai ⁹, ¹Department of Rheumatology, Kawasaki Medical School, Kurashiki, Okayama, Japan, ²Department of Life Sciences, Faculty of Life and Environmental Sciences, Prefectural University of Hiroshima, shobara, Hiroshima, Japan, ³Department of Immunology and Molecular Genetics, Kawasaki Medical School, Kurashiki, Okayama, Japan, ⁴Department of Immunology and Molecular Genetics, Kurashiki, Okayama, Japan, ⁵Department of Internal Medicine, Miyazaki Prefectural Miyazaki Hospital, Miyazaki, Japan, ⁶Department of Pediatrics, Kyoto University Graduate School of Medicine, Kyoto, Japan, ⁷Department of Internal Medicine, Kyushu University Beppu Hospital, Beppu, Japan, Beppu, Japan, ⁸Department of Pediatrics and Child Health, Kurume University School of Medicine, Kurume, Fukuoka, Japan, ⁹Department of Rheumatology, Kawasaki medical School, Kurashiki, Okayama, Okayama, Japan
Background/Purpose: TNF Receptor-Associated Periodic Syndrome (TRAPS) is one of the autoinflammatory diseases. TRAPS is caused by heterozygous mutations in the TNFRSF1A gene. Although more than…
Abstract Number: 799 • 2019 ACR/ARP Annual Meeting
Application of the Autoinflammatory Disease Activity Index (ADDI) to a Cohort of Patients in a Tertiary Hospital
Mireia Lopez-corbeto¹ and Estefania Moreno Ruzafa ¹, ¹Hospital Universitari Vall d'Hebron, Barcelona, Spain
Background/Purpose: Autoinflammatory diseases (AIDs) cause chronic systemic inflammation that can damage multiple organs. Recently, the ADDI index has been developed and validated in the four…
Abstract Number: 810 • 2019 ACR/ARP Annual Meeting
Small Vessel Vasculitis Syndrome with Autoinflammation Caused by De Novo Mutations in LYN Kinase
Adriana de Jesus¹, Gina Montealegre Sanchez ², Helen Freeman ³, Neil Martin ⁴, Ebun Omoyinmi ⁵, Katherine Calvo ⁶, Richard Chyi-chia Lee ⁷, Murray Passo ⁸, Natasha Ruth ⁸, David Kleiner ⁷, Yan Huang ⁹, Nirali Shah ¹⁰, Paul Brogan ¹¹, SuJin Hwang ¹², HyeSun Kuehn ¹², Sergio Rosenzweig ¹², Zuoming Deng ¹³, Anna Huttenlocher ¹⁴, Susan Moir ¹⁵, Douglas Kuhns ¹⁶ and Raphaela Goldbach-Mansky ¹⁷, ¹Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD, ²Translational Autoinflammatory Disease Section/NIAID/NIH, Bethesda, ³Raigmore Hospital, Inverness, United Kingdom, ⁴Royal Hospital for Children, Glasgow, United Kingdom, ⁵University College London Institute of Child Health, London, United Kingdom, ⁶Hematology Service/Department of Laboratory Medicine/NIH, Bethesda, MD, ⁷Laboratory of Pathology/NCI/NIH, Bethesda, MD, ⁸Medical University of South Carolina, Charleston, SC, ⁹Translational Autoinflammatory Disease Section/NIAID/NIH, Bethesda, MD, ¹⁰Pediatric Oncology Branch/NCI/NIH, Bethesda, MD, ¹¹Great Ormond Street Hospital for Children NHS Foundation Trust, London, United Kingdom, ¹²Immunology Service/Department of Laboratory Medicine/NIH, Bethesda, MD, ¹³Biomining and Discovery Section/NIAMS/NIH, Bethesda, MD, ¹⁴Department of Pediatrics/University of Wisconsin, Madison, WI, ¹⁵Immunopathogenesis Section/NIAID/NIH, Bethesda, MD, ¹⁶Collaborative Clinical Research Branch/NIAID/NIH, Bethesda, MD, ¹⁷Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD
Background/Purpose: Lyn kinase is a member of the Src family of non-receptor tyrosine-protein kinases that modifies signals from various cell surface receptors and regulates innate…
Abstract Number: 903 • 2019 ACR/ARP Annual Meeting
Prevalence of Atopic Features in Classic Autoinflammatory Diseases
Brian Dizon¹, Hirsch komarow ¹, Deborah Stone ¹, Patrycja Hoffmann ¹, Anne Jones ¹, Tina Romeo ¹, Karyl Barron ¹, Ivona Aksentijevich ², Daniel Kastner ¹, Amanda Ombrello ¹, Joshua Milner ¹ and Daniella Schwartz ¹, ¹National Institutes of Health, Bethesda, MD, ²National Institutes of Health, Bethesda
Background/Purpose: Autoinflammatory diseases (AIDs), often caused by single gene mutations, are disorders in which aberrant activation of innate immune cells causes uncontrolled systemic inflammation. Because…
Abstract Number: 947 • 2019 ACR/ARP Annual Meeting
TNF Inhibitor Treatment and Dramatic Stroke Risk Reduction in Patients with Deficiency of Adenosine Deaminase 2
Ryan Laird¹, Patrycja Hoffmann ², Karyl Barron ², Deborah Stone ², Michele Nehrebecky ³, Anne Jones ², Tina Romeo ², Camilo Toro ³, Arianne Soldatos ⁴, Cornelia Cudrici ³, Daniel Kastner ² and Amanda Ombrello ², ¹National Institues of Health, Bethesda, ²National Institutes of Health, Bethesda, MD, ³National Institutes of Health, Bethesda, ⁴NIH/NINDS, Bethesda
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by biallelic loss-of-function mutations in the ADA2 gene . Over 60 pathogenic…
Abstract Number: 1244 • 2019 ACR/ARP Annual Meeting
Tocilizumab – An Effective Rescue Therapy for Refractory Unclassified Autoinflammatory Diseases in Children
Jasmin B. Kuemmerle-Deschner¹, Daniel Sturm ¹ and Susanne Benseler ², ¹University Hospital Tuebingen, Tuebingen, Germany, ²Alberta Childrens Hospital Research Institute, Calgary, Canada
Background/Purpose: Evidence based treatment options for children and adults with unclassified autoinflammatory diseases (AID) are limited. Frequently, IL-1-inhibition is primarily tried to control the severe…

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