Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0278 • ACR Convergence 2023
NOD2 Genotyping Landscape in Yao Syndrome
Hafsa Nomani¹, Ashmia Saif², Frank Hwang¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Stony Brook University Hospital, Syosset, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. This study…
Abstract Number: 1146 • ACR Convergence 2023
Gene X Environment Paradigm: Exemplified by Selected Cases of Autoinflammatory Diseases
Qingping Yao and Peter Gorevic, Stony Brook University, Stony Brook, NY
Background/Purpose: The current scientific opinion holds that gene and environment (G X E) interactions contribute to certain human diseases. Systemic autoinflammatory diseases (SAIDs) are usually…
Abstract Number: 1929 • ACR Convergence 2023
Anakinra Treatment in Idiopathic Recurrent Pericarditis: A Single-center Experience
Zeynep Toker Dincer¹, Sejla Karup², Erkin Yilmaz¹, Osman Corbali¹ and Serdal Ugurlu¹, ¹Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Cerrahpasa Medical Faculty, Istanbul University-Cerrahpasa, Istanbul, Turkey
Background/Purpose: Idiopathic recurrent pericarditis (IRP) is defined by recurring episodes of pericardial inflammation without a known cause. This study investigates the safety and efficacy of…
Abstract Number: PP11 • ACR Convergence 2023
We Suffered For Decades, But Then She Was Born
Ian Stedman¹ and Barbara Stedman², ¹Canadian Autoinflammatory Network, Vaughan, ON, Canada, ²Canadian Autoinflammatory Network, Turkey Point, ON, Canada
Background/Purpose: I was born in 1981; my mother in 1949; and my grandmother in 1926. Our story runs at least four generations deep, that we…
Abstract Number: 0064 • ACR Convergence 2023
Correlation of Anti-DFS70 Autoantibodies by ELISA with HEp-2 Cells DFS Pattern by IFA
Vincent ricchiuti¹, Michael Nappi², Kelly Chun², Ajay Grover¹ and Rubio Punzalan², ¹Labcorp, Dublin, OH, ²Labcorp, Calabasas, CA
Background/Purpose: The discovery and characterization of the dense fine speckled (DFS, ICAP AC-2) nuclear pattern of antinuclear autoantibodies (ANA) detected in HEp-2 cells by indirect…
Abstract Number: 0306 • ACR Convergence 2023
Fitbit Is a Valid and Reliable Physical Activity Monitor in Idiopathic Inflammatory Myopathy
Akanksha Sharma¹, shiri keret², Raisa Lomanto Silva³, Tanya Chandra⁴, Joel Levin⁵, Siamak Moghadam-Kia³, Chester V. Oddis⁶ and Rohit Aggarwal⁶, ¹UPMC Mercy Hospital, Pittsburgh, PA, ²Bnai Zion, Atlit, Israel, ³University of Pittsburgh Medical Center, Pittsburgh, PA, ⁴Georgetown University Hospital, Washington, DC, ⁵University of Pittsburgh, Katz Graduate School, Pittsburgh, PA, ⁶University of Pittsburgh, Pittsburgh, PA
Background/Purpose: Idiopathic inflammatory myopathies (IIM, myositis) are a systemic autoimmune disease leading to debilitating muscle weakness and significant limitations in daily activities. Physical activity monitor…
Abstract Number: 1148 • ACR Convergence 2023
A Comparative Study of Clinical Phenotype in Relation to NOD2 Sub-genotypes in Yao Syndrome
Ashmia Saif¹, Hafsa Nomani², Frank Hwang², Jie Yang² and Qingping Yao², ¹Stony Brook University Hospital, Syosset, NY, ²Stony Brook University, Stony Brook, NY
Background/Purpose: Yao syndrome (YAOS, OMIM 617321) is formerly designated NOD2-associated autoinflammatory disease. A spectrum of NOD2 mutations have been associated with this disease. Most patients…
Abstract Number: 1932 • ACR Convergence 2023
The Association Between Initial Ferritin and Complications from Adults Onset Stills Disease and Intensive Care Unit Admission
Olivia Yang¹, Caroline Bui¹, Scott Kubomoto¹, Napatkamon Ayutyanont¹, Kimberly Vickery¹ and Kumar Venkat², ¹Riverside Community Hospital, Riverside, CA, ²Retired, Irvine, CA
Background/Purpose: Adult Onset Still's Disease (AOSD) is an autoinflammatory disease characterized by quotidian fever, arthralgia, and a salmon colored rash. Due to its rarity, there…
Abstract Number: 032 • 2023 Pediatric Rheumatology Symposium
From Bedside to Bench and Back: Discovery of a Novel Missense Variant in NLRP3 Causing Atypical Cryopyrin-Associated Periodic Syndromes with Hearing Loss as the Primary Presentation, Responsive to Anti-IL1 Therapy
Merav Birk-Bachar¹, Hadar Cohen², Yoel Levinsky³, rotem tal⁴, Gil Amarilyo⁵, Meirav Sokolov⁶, Efrat Sofrin-Drucker⁷, Naama Orenstein⁷, Gabriel Lidzbarsky⁷, Liora Kornreich⁸, Eyal Raveh⁶, Nesya Kropach-Gilad⁷, Motti Gerlic² and Liora Harel⁹, ¹Pediatric Rheumatology Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ²Sackler Faculty of Medicine, Immunology Department, Tel Aviv University, Tel Aviv, Israel, ³Schneider Children's Medical Center of Israel, Tel Aviv University, Petach Tikva, Israel, ⁴Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁵Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁶Pediatric Ear Nose and Throat Unit Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁷Recanati Genetic Institute, Rabin Medical Center-Beilinson Hospital, Petach Tikva, Israel, ⁸Pediatric Imaging Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel, ⁹Scheiders Children Medical Center of Israel, Petah-Tiqva, Israel
Background/Purpose: Cryopyrin-associated periodic syndromes (CAPS) are a spectrum of rare autoinflammatory diseases caused by gain-of-function mutations inthe NLRP3 gene. These mutations cause inflammasome hyperactivity and…
Abstract Number: 036 • 2023 Pediatric Rheumatology Symposium
Predictive Factors of Long-lasting Remission Following Anakinra Withdrawal in Patients with Systemic Juvenile Idiopathic Arthritis After Achievement of Clinical Inactive Disease
Germana Nardini¹, Claudia Bracaglia², Denise Pires Marafon¹, Emanuela Sacco³, Arianna De Matteis¹, Ivan Caiello¹, Giusi Prencipe¹, Fabrizio De Benedetti² and Manuela Pardeo², ¹Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesu', Roma, Italy, ²Division of Rheumatology, IRCCS Ospedale Pediatrico Bambino Gesù, Roma, Italy, ³Fondazione Casa Sollievo della Sofferenza, Pediatria, San Giovanni Rotondo, Italy
Background/Purpose: Systemic juvenile idiopathic arthritis (sJIA) is a rare autoinflammatory disease of unknown etiology. Several uncontrolled studies showed that early treatment with anakinra is associated…
Abstract Number: 044 • 2023 Pediatric Rheumatology Symposium
Validation of Newly Proposed Classification Criteria for Pediatric Chronic Nonbacterial Osteomyelitis: A Virginia Cohort
Kelley Lee¹, Ashley Kim² and Aarat Patel³, ¹University of Richmond, Richmond, VA, ²University of Virginia, Charlottesville, VA, ³Bon Secours Mercy Health / University of Virginia, GLEN ALLEN, VA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an aseptic autoinflammatory bone disease of unknown etiology. This diagnosis can be delayed due to the non-specific nature of…
Abstract Number: 059 • 2023 Pediatric Rheumatology Symposium
Update of Clinical and Laboratory Features of the Childhood Arthritis and Rheumatology Research Alliance (CARRA) Systemic Juvenile Idiopathic Arthritis-Associated Lung Disease (SJIA-LD) Cohort
Esraa Eloseily¹, Min-Lee Chang², Mary Ellen Riordan³, allan Russell⁴, Marc Natter², Yukiko Kimura⁵ and Grant Schulert¹, ¹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ²Boston Children's Hospital, Boston, MA, ³Hackensack Meridian Health/ Joseph M. Sanzari Children's Hospital, Hackensack, NJ, ⁴Duke Clinical Research Institute, Durham, NC, ⁵Hackensack Meridian School of Medicine, Hackensack, NJ
Background/Purpose: Systemic juvenile idiopathic arthritis (SJIA) associated lung disease (SJIA-LD) is an emerging and life-threatening clinical problem. Despite recent advances, there remain key unanswered questions…
Abstract Number: 068 • 2023 Pediatric Rheumatology Symposium
Outcomes of Children with Uveitis Associated with Autosomal Dominant Neovascular Inflammatory Vitreoretinopathy (ADNIV)
Ilaria Maccora¹, Arjun Sood², Grant Schulert³, Megan Quilan-Water³, Alexandra Duell³, Jennifer Huggins³, Tiffany Nguyen², Cameron Sapp², Sumit Sharma⁴, Srivastaval Sunil⁴ and Sheila Angeles-Han⁵, ¹IRCCS Meyer Children’s Hospital, Rheumatology Unit, Florence, Italy, ²Cincinnati Eye Institute, Cincinnati, OH, ³Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ⁴Cole Eye Institute, Cleveland Clinic, Cleveland, OH, ⁵Cincinnati Children's Hospital, Cincinnati, OH
Background/Purpose: Pediatric uveitis is commonly associated with rheumatic disease and can lead to sight-threatening complications if not properly treated. Systemic immunomodulatory therapy has dramatically changed…
Abstract Number: 077 • 2023 Pediatric Rheumatology Symposium
Clinical Characteristics of Chronic Recurrent Multifocal Osteomyelitis or Chronic Nonbacterial Osteomyelitis in Pediatrics; Single Center Study in Korea
Minji Kim¹, Jieun Jeong¹, Jiwon Jung², Seong Heon Kim¹ and Seon Hee Lim³, ¹Department of Pediatrics, Seoul National University Children’s Hospital, Seoul, Republic of Korea, ²Asan Medical Center Children's Hospital, Seoul, Republic of Korea, ³Department of Pediatrics, Pusan National University Children’s Hospital, Yangsan, Republic of Korea
Background/Purpose: CRMO is an autoinflammatory bone disease which has a recurrent bone pain as a symptom. It causes problems in various organs, including joints, skin,…
Abstract Number: 078 • 2023 Pediatric Rheumatology Symposium
Periodic Fever Syndrome and Myelodysplastic Syndrome: Possible Connections Between Two Disorders
Ivanna Romankevych¹, Nicole Torres², Imani Sanders¹, Laurent King¹ and Pedro Garcia Rodriguez¹, ¹Jackson Health System, University of Miami Miller School of Medicine, Miami, FL, ²University of Miami Miller School of Medicine, Miami, FL
Background/Purpose: Background: associations between autoimmune, immunodeficiency and hematological disorders are well known as well as with autoinflammatory conditions. Modern genetic testing allows to link these…

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