Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 0260 • ACR Convergence 2023
Phenotypes of the Patients with More Than One Autoinflammatory Gene Variant: Classified Diseases and Mixed Autoinflammatory Disorders (MAID)
Shirkhan Amikishiyev¹, Tuğba Kalaycı², Lale Soltanova³, Yasemin Yalçınkaya⁴, Bahar Artim-Esen¹, Murat Inanc¹, Ayla Sahin², Sema Sırma Ekmekci⁵, Neslihan Abacı⁵, Sukru Ozturk², Sukru Palanduz² and Ahmet Gul¹, ¹Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ²Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ⁴Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey
Background/Purpose: Background: Systemic autoinflammatory disorders (SAIDs) are including a group of diseases, which are associated with genetic variations resulting in dysregulation of innate immunity and…
Abstract Number: 1129 • ACR Convergence 2023
Accuracy and Performance Characteristics of Administrative Codes for the Diagnosis of Autoinflammatory Syndromes: A Discovery and Validation Study
Saeyun Lee¹, Sujin Kim², Suzanne Segerstrom², Polly Ferguson¹ and Aleksander Lenert³, ¹University of Iowa Carver College of Medicine, Iowa City, IA, ²University of Kentucky, Lexington, KY, ³University of Iowa, Iowa City, IA
Background/Purpose: Autoinflammatory syndromes (AIS), a group of rare rheumatic diseases driven by the innate immune system, remain understudied due to the lack of prospective cohorts.…
Abstract Number: 1916 • ACR Convergence 2023
Clinical Features of the Patients with NLRP1 Gene Variants and a Systemic Autoinflammatory Phenotype
Shirkhan Amikishiyev¹, Tuğba Kalaycı², Rabia Deniz³, Yasemin Yalçınkaya⁴, Bahar Artim-Esen¹, Murat Inanc¹, Ayla Sahin², Sema Sırma Ekmekci⁵, Neslihan Abacı⁵, Sukru Ozturk², Sukru Palanduz² and Ahmet Gul¹, ¹Division of Rheumatology, Department of Internal Medicine, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ²Department of Genetics, Istanbul Faculty of Medicine, Istanbul University, Istanbul, Turkey, ³Division of Rheumatology, University of Health Sciences, Başakşehir Çam and Sakura City Hospital, Istanbul, Turkey, ⁴Istanbul University, Istanbul Faculty of Medicine, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁵Istanbul University, Aziz Sancar Institute of Experimental Medicine, Department of Genetics, Istanbul, Turkey
Background/Purpose: Although NLRP1 was the first identified member of the NOD-like receptors family, its role as a sensor of pathogen- or damage-associated signals and its…
Abstract Number: 2477 • ACR Convergence 2023
Anifrolumab Normalizes the Type I Interferon Signature in a Cohort of Patients with Type I Interferonopathies
Sara Alehashemi¹, Alexi Baumgardner², Bita Shakoory³, Adriana Almeida de Jesus², Sophia Park², Kat Uss², Maria P. Robles⁴, Karin Palmblad⁵, Annacarine Horne⁵, Peter Brodin⁵, Shoghik Akoghlanian⁶, Roshini Abraham⁷, Peter Mustillo⁷, Lilliana Barillas-Arias⁸, Andrea Heras⁹, Theresa Wampler Muskardin¹⁰, Monica G. Lawrence¹¹, Hannah C. Mannem¹¹, Brian E. Nolan¹², Scott Canna¹³, Adam Reinhardt¹⁴, Bryce Binstadt¹⁵ and Raphaela Goldbach-Mansky¹⁶, ¹NIH/NIAID/TADS, Clarksville, MD, ²NIAID, NIH, Bethesda, MD, ³NIH, NIAID, Translational Autoinflammatory Disease Study Unit, Bethesda, MD, ⁴Indiana University, Indianapolis, IN, ⁵Karolinska University Hospital, Stockholm, Sweden, ⁶Nationwide Children's Hospital, Columbus, OH, ⁷Nationwide Children's Hospital, Columbus, OH, ⁸Albany Medical Center, Albany, NY, ⁹Weill Cornell Medicine, New York, NY, ¹⁰Hospital for Special Surgery, New York, NY, ¹¹University of Virginia, Charlottesville, VA, ¹²Lurie Children’s Hospital, Chicago, IL, ¹³Children's Hospital of Philadelphia, Philadelphia, PA, ¹⁴Boys Town National Research Hospital, Omaha, NE, ¹⁵University of Minnesota, Minneapolis, MN, ¹⁶NIH/NIAID, Potomac, MD
Background/Purpose: Autoinflammatory Type I Interferonopathies (IFNopathies) include SAVI (STING-associated vasculopathy with onset in infancy), CANDLE/PRASS (Chronic atypical neutrophilic dermatosis, with lipodystrophy and elevated temperature), and…
Abstract Number: 0269 • ACR Convergence 2023
Acute Kidney Injury and Plasma Cell-Rich Acute Interstitial Nephritis in VEXAS Syndrome: An Under-recognized Disease Feature
Matthew Koster, Loren HerreraHernandez, Lihong Bu, Daniel Montes, Samih Nasr, Lynn Cornell, Kenneth Warrington, Mrinal S. Patnaik, Abhishek A. Mangaonkar and Kambiz Kalantari, Mayo Clinic, Rochester, MN
Background/Purpose: VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified autoinflammatory disease with a large variety of disease manifestations. While recurrent fever,…
Abstract Number: 1132 • ACR Convergence 2023
Preclinical Profiles of FZ007-119, a Highly Potent and Selective Tyk2 Inhibitor, for the Treatment of Immune Mediated Inflammatory Diseases
Wenhe Zhong, Jielian Lu, Dong Chen, Shiqun Zhang and Daiguo Deng, Guangzhou Fermion Technology Co., LTD, Guangzhou, China
Background/Purpose: Tyrosine Kinase 2 (TYK2) is a signaling protein within the Janus kinase (JAK) family. It plays a crucial role in transmitting signals from pro-inflammatory…
Abstract Number: 1918 • ACR Convergence 2023
Nationwide Analysis of Predictors of Sarcoid Inpatient Mortality
Michael Manansala¹, Faria Sami², Shilpa Arora³ and Augustine Manadan¹, ¹Rush University Medical Center, Chicago, IL, ²John H. Stroger Jr. Hospital of Cook County, Chicago, IL, ³Cook County Hospital, Chicago, IL
Background/Purpose: Sarcoidosis is multisystem autoimmune disease characterized by noncaseating granulomas which can result in significant morbidity and mortality. This study aims to identify variables associated…
Abstract Number: 2505 • ACR Convergence 2023
Discovery of First-in-Class IRAK4 Scaffolding Inhibitors for the Treatment of Inflammatory Disorders
Kate Byth¹, Rodney Morgan², Pierre Michelys³, Kellie Demock², Geetha Kannan², Qing Chen¹, Brian Sanchez², Xiaokang Lu², Alissa Telling², Chuck Lesch², Carmen Yu², Sarah Bradley², Brian Andresen¹, Sherif Hassanien², Clarke Taylor², Zhilin Hou², Ken Borrelli¹, Anna Gardberg¹, Erika Munschy¹, Adam Schwaid¹, Anthony Opipari², Shifeng Pan³ and Luigi Franchi², ¹Odyssey Therapeutics, Boston, MA, ²Odyssey Therapeutics, Ann Arbor, MI, ³Odyssey Therapeutics, San Diego, CA
Background/Purpose: Interleukin-1 receptor-associated kinase 4 (IRAK4), is a key node that mediates inflammatory signaling in response to activation of toll-like receptor (TLR) and IL-1 receptor…
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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