Abstracts tagged "Autoinflammation"

Abstract Number: 018 • 2020 Pediatric Rheumatology Symposium
Functional Characterization of PLCG2 Mutations Found in Subjects with Autoinflammation and PLCG2-Associated Antibody Deficiency and Immune Dysregulation (APLAID) Reveals Both Hypermorphic and Hypomorphic Mutants
Kathleen Baysac¹, Charles Fisher ¹, Hiroto Nakano ¹, Guangping Sun ², Joshua Milner ³ and Michael Ombrello ¹, ¹NIAMS, NIH, Bethesda, ²NIAID, NIH, Bethesda, ³
Background/Purpose: PLCG2-associated antibody deficiency and immune dysregulation (PLAID) and autoinflammatory PLAID (APLAID) are autosomal dominant diseases caused by mutations of PLCG2. APLAID is clinically characterized…
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: 100 • 2020 Pediatric Rheumatology Symposium
Does Anakinra Dampen Neuronal Damage in Children with Febrile-Infection Related Epilepsy Syndrome (FIRES): A Single Center Review of Neuroimaging
Eyal Muscal¹, Jill Hunter ², Yi-Chen Lai ² and James Riviello ², ¹Section of Rheumatology, Department of Pediatrics, Baylor College of Medicine, houston, ²BCM/TCH, Houston
Background/Purpose: Febrile-illness related epilepsy syndrome (FIRES), characterized by the emergence of super refractory status epilepticus (SRSE) in previously healthy children following a febrile illness, is…
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: 1937 • 2019 ACR/ARP Annual Meeting
Mononuclear Leukocyte DNA Methylome Imprinting of Networked Signaling and Immunity Regulatory Pathways in Gout
Zengmiao Wang ¹, Ying Zhao ¹, Amanda Phipps-Green ², Ru Liu-Bryan ³, Arnold Ceponis ¹, David Boyle ⁴, Jun Wang ¹, Tony Merriman ⁵, Wei Wang ⁴ and Robert Terkeltaub⁶, ¹UCSD, La Jolla, CA, ²University of Otago, Otago, Otago, New Zealand, ³San Diego VA/UCSD, La Jolla, CA, ⁴University of California, San Diego, San Diego, CA, ⁵University of Otago, Birmingham, AL, ⁶San Diego VA/UCSD, San Diego, CA
Background/Purpose: Gout encompasses acute arthritis flares mediated by innate autoinflammatory responses to urate crystals, chronic granulomatous tophi, and synovitis promoting bone erosion and soft tissue…
Abstract Number: 2900 • 2019 ACR/ARP Annual Meeting
Interferon Signature Predicts Response to Tofacitinib in Haploinsufficiency of A20
Sarah Blackstone¹, Daniella Schwartz ¹, Natalia Sampaio Moura ¹, Deborah Stone ¹, Meryl Waldman ¹, Patrycja Hoffmann ¹, Anne Jones ¹, Tina Romeo ¹, Karyl Barron ¹, Joshua Milner ¹, Daniel Kastner ¹ and Amanda Ombrello ¹, ¹National Institutes of Health, Bethesda, MD
Background/Purpose: The protein A20, encoded by TNFAIP3, represses signaling upstream of the inflammatory transcription factor nuclear factor (NF)-kB by regulating ubiquitination. Heterozygous loss-of-function mutations in…
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: 778 • 2019 ACR/ARP Annual Meeting
Multiple Genetic Diagnoses in a Cohort of Patients with Cryopyrin Associated Periodic Syndrome (CAPS)
Sofia Torreggiani¹, Megha Garg ², Sara Alehashemi ³, Kim johnson ¹, Jenna Wade ⁴, Lena Bichell ⁴, Magdalena Walkiewicz ⁵, Adriana de Jesus ⁶ and Raphaela Goldbach-Mansky ³, ¹Translational and Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ²Rochester Regional Health, Rochester, NY, ³Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ⁴Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, ⁵Division of Intramural Research (DIR)/NIAID/NIH, Bethesda, MD, ⁶Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD
Background/Purpose: Cryopyrin associated periodic syndrome (CAPS) is an autosomal dominant autoinflammatory disease caused by mutations in NLRP3. CAPS comprises 3 clinical phenotypes of increasing severity:…
Abstract Number: 801 • 2019 ACR/ARP Annual Meeting
Preliminary Analysis of Hearing Loss in a Neonatal-Onset Multisystem Inflammatory Disease (NOMID) Cohort Followed over a Mean of 10 Years: Normal Hearing at Baseline and Early Treatment with Anakinra Area Associated with Maintenance of Normal Hearing
Sara Alehashemi¹, Megha Garg ², Kelly King ³, Chris Zalewski ³, Adriana de Jesus ⁴, John Butman ⁵, Jonah Eisenberg ⁶, Carmen Brewer ³, Jeffrey KIm ⁷ and Raphaela Goldbach-Mansky ¹, ¹Translational Autoinflammatory Diseases Section/NIAID/NIH, Bethesda, MD, ²Rochester Regional Health, Rochester, NY, ³NIDCD/NIH, Bethesda, ⁴Translation Autoinflammatory Diseases Section/NIAID/NIH, Silver Spring, MD, ⁵CC/NIH, Bethesda, ⁶University of Michigan, Ann Arbor, ⁷NIDCD, Bethesda
Background/Purpose: Neonatal-onset multisystem inflammatory disease (NOMID), caused by gain-of-function mutation in the NLRP3 inflammasome, presents with systemic inflammation, rash, eye inflammation, aseptic meningitis and sensorineural…
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: 1253 • 2019 ACR/ARP Annual Meeting
Novel Nonsense Variant and Entire Deletion of TNFAIP3 Cause Haploinsufficiency of A20 Clinically Distinct from Behçet’s Disease
Naomi Tsuchida¹, Yohei Kirino ¹, Yutaro Soejima ¹, Hideaki Nakajima ¹, Satoko Miyatake ² and Naomichi Matsumoto ², ¹Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine, Yokohama, Japan, ²Department of Human Genetics, Yokohama City University Graduate School of Medicine, Yokohama, Japan
Background/Purpose: Haploinsufficiency of A20 (HA20) is caused by loss-of-function TNFAIP3 variants. Phenotypic and genetic features of HA20 remain uncertain; therefore, clinical distinction between HA20 and…
Abstract Number: 533 • 2018 ACR/ARHP Annual Meeting
Association between Inflammation and Changes in Kidney Function in Patients with Early Rheumatoid Arthritis
Ganna Prytkova¹, Dmytro Rekalov² and Daryna Nikitina¹, ¹Rheumatology, Zaporizhzhya Regional Clinical Hospital, Zaporizhzhya, Ukraine, ²Department of Internal Diseases, Zaporizhzhya Regional Clinical Hospital, Zaporizhzhya, Ukraine
Background/Purpose: One of the most severe visceral manifestations of RA is nephropathy. The key symptoms of renal dysfunction (RD) are microalbuminuria (MA), β-2-microglobulinuria (β-2M), reduced…
Abstract Number: 918 • 2018 ACR/ARHP Annual Meeting
A Novel Familial RELA Truncation Is Associated with Behçet’s-like Mucocutaneous Ulceration Syndrome
Emma Dorris¹, Fahd Adeeb², Eoin Cummins³, Sinisa Savic⁴, Sandy Fraser⁵ and Anthony G. Wilson⁶, ¹UCD Conway Institute,, UCD Centre for Arthritis Research, Dublin 4, Ireland, ²Department of Rheumatology, University of Limerick, LIMERICK, Ireland, ³School of Medicine, Dublin 4, Ireland, ⁴Leeds Institute of Rheumatic and Musculoskeletal Medicine, The University of Leeds, Leeds, United Kingdom, ⁵Rheumatology, Croom Orthopedic Hospital, Ireland, Limerick, Ireland, ⁶UCD School of Medicine and Medical Science, Conway Institute, University College Dublin, Dublin, Ireland
Background/Purpose: Bechet’s disease (BD) is a heterogeneous multifactorial auto-inflammatory condition characterized by recurrent episodes of oral and genital ulceration, uveitis and skin lesions, with less…
Abstract Number: 925 • 2018 ACR/ARHP Annual Meeting
Abortive Viral Infection Becomes Macrophage Activation Syndrome in Mice with Chronically Elevated Interleukin-18: Evidence for Synergy with Cytotoxic Impairment
Paul Tsoukas¹, Corinne Schneider², Lauren Van Der Kraak² and Scott Canna³, ¹Pediatric Rheumatology, Children’s Hospital of Pittsburgh, Pittsburgh, PA, ²RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburgh, PA, ³RK Mellon Institute for Pediatric Research, University of Pittsburgh/Children's Hospital of Pittsburgh of UPMC, Pittsburrgh, PA
Background/Purpose: Macrophage Activation Syndrome (MAS) and Hemophagocytic lymphohistiocytosis (HLH) are clinically similar life-threatening hyperinflammatory syndromes, often triggered by viral infection. HLH is associated with cytotoxic…
Abstract Number: 1026 • 2018 ACR/ARHP Annual Meeting
Autoinflammatory Diseases, Particularly SAVI and Candle, Are Driven By Chronically Active Type I Interferons
Bernadette Marrero¹, Katherine R. Calvo², Yin Liu³, Angelique Biancotto⁴, Yan Huang¹ and Raphaela Goldbach-Mansky¹, ¹Translational Autoinflammatory Disease Section (TADS), Laboratory of Clinical Investigation and Microbiology (LCIM), NIAID/NIH, Bethesda, MD, ²Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD, ³Scientific Review Branch, NIAMS/NIH, Bethesda, MD, ⁴Center for Human Immunology Autoimmunity and Inflammation (CHI), NIAID, NIH, Bethesda, MD
Background/Purpose: STING Associated Vasculopathy with onset in Infancy (SAVI)is caused by gain-of-function mutations in TMEM173/STING and Chronic Atypical Neutrophilic Dermatosis with Lipodystrophy and Elevated Temperature…

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