Abstracts tagged "Autoinflammatory Disease"

Abstract Number: 145 • 2017 Pediatric Rheumatology Symposium
JAK Inhibition Rescues Novel PSMB8 Mutations
J. Brian Shirley¹, Tiphanie Vogel² and Marietta de Guzman³, ¹Allergy, Immunology and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX, ²Department of Pediatrics, Division of Immunology, Allergy and Rheumatology and the Center for Human Immunology at Texas Children's Hospital., Baylor College of Medicine, Houston, TX, ³Department of Pediatrics, Division of Immunology, Allergy and Rheumatology, Baylor College of Medicine, Texas Children's Hospital, Houston, TX
Background/Purpose: The proteasome associated autoinflammatory syndromes (PRAAS) are characterized by autosomal recessive mutations in the PSMB8 gene. These mutations result in an early childhood overproduction…
Abstract Number: 79 • 2017 Pediatric Rheumatology Symposium
Predicting Colchicine Response in Patients with Undefined Autoinflammatory Diseases
Jonathan S. Hausmann^1,2, Burcu Guven², Edwin Anderson³ and Fatma Dedeoglu², ¹Rheumatology, Beth Israel Deaconess Medical Center, Boston, MA, ²Rheumatology, Boston Children's Hospital, Boston, MA, ³Division of Immunology, Boston Children's Hospital, Boston, MA
Background/Purpose: Autoinflammatory diseases (AIDs) are a rare group of illnesses characterized by unprovoked episodes of fever and systemic inflammation. An understanding of their pathophysiology has…
Abstract Number: 142 • 2017 Pediatric Rheumatology Symposium
Neutrophils and monocytes in the early inflammatory cascade of systemic onset Juvenile Idiopathic Arthritis
Nienke M. ter Haar¹, Wilco de Jager², Rianne C. Scholman¹, Jenny Meerding¹, Bas Vastert^3,4 and Sytze de Roock⁴, ¹Laboratory for Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands, ²Dept Immunology, UMC Utrecht, Utrecht, Netherlands, ³Division of Pediatric Rheumatology, University Medical Center Utrecht, Utrecht, Netherlands, ⁴Laboratory of Translational Immunology, University Medical Center Utrecht, Utrecht, Netherlands
Background/Purpose: Systemic onset Juvenile Idiopathic Artritis (sJIA) is an acquired systemic autoinflammatory disease characterized by spiking fever, arthritis and skin rash. Patients display high inflammatory…
Abstract Number: 254 • 2016 ACR/ARHP Annual Meeting
NLRP12 Autoinflammatory Disease: A Chinese Case Series and Literature Review
Min Shen¹, Lin Tang², Xiaochun Shi³, Xiaofeng Zeng¹ and Qingping Yao⁴, ¹Rheumatology, Peking Union Medical College Hospital, Beijing, China, ²Rheumatology, the Second Affiliated Hospital of Chongqing Medical University, Chongqing, China, ³Infectious Disease, Peking Union Medical College Hospital, Beijing, China, ⁴Rheumatology, Allergy, and Immunology, Stony Brook University School of Medicine, Stony Brook, NY
Background/Purpose: Systemic autoinflammatory diseases (SAIDs) are a genetically heterogeneous group of rheumatic diseases that are driven by abnormal activation of the innate immune system.…
Abstract Number: 255 • 2016 ACR/ARHP Annual Meeting
Safety and Efficacy of Long-Term Canakinumab Therapy in Patients with CAPS: Final Results from Beta-Confident Registry
Hal M. Hoffman¹, Jasmin B. Kuemmerle-Deschner², Philip N. Hawkins³, Tom van der Poll⁴, Ulrich A. Walker⁵, Antonio Speziale⁶, Yolandi Joubert⁶ and Hugh H. Tilson⁷, ¹Division of Rheumatology, Allergy, and Immunology, University of California at San Deigo, La Jolla, CA, ²Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ³University College London Medical School, London, United Kingdom, ⁴Academic Medical Center, University of Amsterdam, Amsterdam, Netherlands, ⁵Department of Rheumatology, University Hospital Basel, Basel, Switzerland, ⁶Novartis Pharma AG, Basel, Switzerland, ⁷University of North Carolina, Gillings School of Global Public Health, Chapel Hill, NC
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is a rare auto-inflammatory disease encompassing a spectrum of 3 phenotypes: familial cold auto-inflammatory syndrome (FCAS), Muckle–Wells syndrome (MWS), and…
Abstract Number: 257 • 2016 ACR/ARHP Annual Meeting
CNS Manifestations of Patients with Muckle-Wells Syndrome
sara Sebnem KILIC¹, sukru cekic² and Juan Aróstegui³, ¹Pedaitric Rheumatology, Prof Dr, Bursa, Turkey, ²Dr, Bursa, Turkey, ³Prof, Barcelona, Spain
Background/Purpose: CAPS is a rare autoinflammatory disease associated with mutations in the NLRP3 gene that result in overactivation of the inflammasome, increased secretion of IL-1beta…
Abstract Number: 258 • 2016 ACR/ARHP Annual Meeting
Unmet Psychosocial Needs in Patients with CAPS
Jasmin B. Kuemmerle-Deschner¹, Gabi Erbis¹, Tetiana Sergiichuk¹, Sandra Hansmann¹, Iris Haug¹ and Susanne Benseler², ¹Pediatrics, University Hospital Tuebingen, Tuebingen, Germany, ²Pediatrics, University of Calgary, Calgary, AB, Canada
Background/Purpose: Cryopyrin-associated periodic syndrome (CAPS) is a rare autoinflammatory disease. Generalized manifestations like recurrent fever and fatigue and organ disease like reduced vision, hearing loss,…
Abstract Number: 1005 • 2016 ACR/ARHP Annual Meeting
Biallelic Hypomorphic Mutations in a Linear Deubiquitinase Define Otulipenia, an Early-Onset Systemic Autoinflammatory Disease
Qing Zhou¹, Xiaomin Yu², Erkan Demirkaya³, Natalie Deuitch⁴, Deborah L. Stone⁵, Wanxia L. Tsai⁶, Hongying Wang⁷, Yong Hwan Park⁷, Amanda K. Ombrello⁸, Tina Romeo⁴, Elaine F. Remmers⁴, JaeJin Chae⁹, Massimo G. Gadina¹⁰, Steven B. Welch¹¹, Seza Ozen¹², Rezan Topaloglu¹³, Mario Abinun¹⁴, Daniel L. Kastner⁷ and Ivona Aksentijevich⁸, ¹Inflammatory Disease Section, National Human Genome Research Institute, Bethesda, MD, ²National Institute of Allergy and Infectious Diseases, Bethesda, MD, ³Gulhane Military Medical Academy, FMF Arthritis Vasculitis and Orphan disease Research Center (FAVOR), Ankara, Turkey, ⁴National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁵Inflammatory Disease Section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ⁶National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD, ⁷National Human Genome Research Institute, Bethesda, MD, ⁸Inflammatory Disease Section, NHGRI, National Institutes of Health, Bethesda, MD, ⁹Inflammatory disease section, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD, ¹⁰[email protected], Bethesda, MD, ¹¹Heart of England NHS Foundation Trust, Birmingham, United Kingdom, ¹²Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹³Hacettepe University Faculty of Medicine, Ankara, Turkey, ¹⁴Institute of Cellular Medicine, Newcastle University, Newcastle, United Kingdom
Background/Purpose: Autoinflammatory diseases are caused by mutations in genes regulating innate immune responses. More than 20 genes have been associated with various monogenic autoinflammatory disorders.…
Abstract Number: 1987 • 2016 ACR/ARHP Annual Meeting
Recessive Coding and Regulatory Mutations in FBLIM1 Underlie the Pathogenesis of Sterile Osteomyelitis
Allison Cox¹, Benjamin W Darbro², Ronald Laxer³, Xinyu Bing⁴, Alexis Finer⁵, Albert Erives⁶, Vinit Mahajan⁷, Alexander G Bassuk¹ and Polly Ferguson⁸, ¹Pediatrics and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ²Department of Pediatrics and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ³Div of Rheumatology, The Hospital for Sick Children, Toronto, ON, Canada, ⁴Department of Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁵Pediatrics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁶Biology and Interdisciplinary Graduate Program in Genetics, University of Iowa Carver College of Medicine, Iowa City, IA, ⁷Department of Ophthalmology and Visual Sciences,, University of Iowa Carver College of Medicine, Iowa City, IA, ⁸Department of Pediatrics--Rheumatology, University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is a rare, pediatric, autoinflammatory disease characterized by bone pain due to sterile osteomyelitis, and is often accompanied by…
Abstract Number: 2256 • 2016 ACR/ARHP Annual Meeting
Histopathologic Features and Tissue Interferon-Response Gene Scoring of Lesional Skin Samples for Diagnosis in Autoinflammatory Disorders
Kyawt W. Shwin^1,2, Chyi-Chia Richard Lee³, Adriana Almeida de Jesus⁴, Carmelo Carmona-Rivera⁵, Louise Malle⁴, Yanfeng Hou⁶, Gina A. Montealegre Sanchez⁴, Edward Cowen⁷ and Raphaela Goldbach-Mansky⁸, ¹Translational Autoinflammatory Diseases Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ²National Institutes of Arthritis and Musculoskeletal and Skin Diseases (NIAMS), National Institutes of Health (NIH), Bethesda, MD, ³Dermatopathology Section, Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, ⁴National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁵Systemic Autoimmunity Branch/ NIAMS, National Institutes of Health, Bethesda, MD, ⁶Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), National Institutes of Health (NIH), Bethesda, MD, ⁷Dermatology Branch, National Cancer Institute (NCI), National Institutes of Health, Bethesda, MD, ⁸Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Many genetically defined autoinflammatory diseases (AID) are caused by innate immune dysregulation and present with “neutrophilic dermatoses”. This study systematically assesses immune-cell infiltrates, and…
Abstract Number: 2381 • 2016 ACR/ARHP Annual Meeting
Canakinumab Monotherapy for the Treatment of Majeed Syndrome. Five-Year Experience
Mia Glerup¹, Bente Fiirgaard², Christian Høst³, Polly Ferguson⁴ and Troels Herlin⁵, ¹Pediatric Rheumatology Clinic, Department of Pediatrics, Dept. of Pediatrics, Aarhus University Hospital, Aarhus, Denmark, ²MR Research Centre, Aarhus University Hospital, Aarhus N, Denmark, ³Dept. of Pediatrics, Aarhus University Hospital, Aarhus, Denmark, ⁴Department of Pediatrics--Rheumatology, University of Iowa Carver College of Medicine, Iowa City, IA, ⁵Pediatric Rheumatology Clinic, Department of Pediatrics, Aarhus University Hospital, Aarhus N, Denmark
Background/Purpose: Majeed syndrome is a rare, autosomal recessive disorder that presents with early onset chronic recurrent multifocal osteomyelitis (CRMO) and microcytic congenital dyserythropoietic anaemia caused…
Abstract Number: 2384 • 2016 ACR/ARHP Annual Meeting
Variable Clinical Phenotypes and Relation of Interferon Signature with Disease Activity in ADA 2 Deficiency
Antonella Insalaco¹, Gianmarco Moneta², Manuela Pardeo¹, Chiara Passarelli³, Camilla Celani⁴, Virginia Messia⁴ and Fabrizio De Benedetti¹, ¹Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Rome, Italy, ²Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy, Roma, Italy, ³Ospedale Pediatrico Bambino Gesù IRCCS, Unit of Medical Genetics, Laboratory of Cytogenetics and Molecular Genetics, Rome, Italy, ⁴Division of Rheumatology, Ospedale Pediatrico Bambino Gesù IRCCS, Roma, Italy
Background/Purpose: The deficiency of adenosindeaminase 2 (DADA2) is a recently described autosomal recessive autoinflammatory disease, caused by mutations of CECR1 and characterized by early onset…
Abstract Number: 2423 • 2016 ACR/ARHP Annual Meeting
Differential Interferon Score Expression in the Peripheral Blood in Mendelian Inflammatory Interferonopathies Versus Juvenile Dermatomyositis (JDM) Subtyped By Myositis Autoantibodies and Disease Activity
Hanna Kim¹, Terrance P. O'Hanlon², Adriana Almeida de Jesus³, Yan Huang³, Ira N. Targoff^4,5, Frederick W. Miller², Raphaela Goldbach-Mansky⁶ and Lisa G. Rider², ¹NIAMS/NIH, Bethesda, MD, ²Environmental Autoimmunity Group, NIEHS, NIH, Bethesda, MD, ³National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ⁴Oklahoma Medical Research Foundation, Oklahoma City, OK, ⁵University of Oklahoma, Oklahoma City, OK, ⁶Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: JDM is a complex autoimmune disease with an interferon (IFN) signature, with a reported correlation with disease activity. Clinical features vary among myositis-specific autoantibody…
Abstract Number: 2429 • 2016 ACR/ARHP Annual Meeting
Mechanisms for the Development of Lung Fibrosis in Sting-Associated Vasculopathy with Onset in Infancy (SAVI)
Adriana Almeida de Jesus¹, Louise Malle¹, Dan Yang², Bernadette Marrero¹, Yin Liu³, Gina A. Montealegre Sanchez¹, Dawn C. Chapelle⁴, Hanna Kim⁴, Michelle O'Brien⁴, Gregor Dueckers⁵, Suzanne Ramsey⁶, Joseph R. Fontana⁷, Steven M. Holland⁸, Yan Huang¹, Suvimol Hill⁹, Laisa Santiago¹⁰, Benito Gonzalez¹¹, Paul Brogan¹², Juergen Brunner¹³, Ebun Omoyinmi¹⁴, Athimalaipet V Ramanan¹⁵, Amy Paller¹⁶, Olcay Y. Jones¹⁷, Seza Ozen¹⁸, Stephen Brooks⁴, Zuoming Deng⁴, Manfred Boehm¹⁹, Raphaela Goldbach-Mansky²⁰ and Helmut Wittkowski²¹, ¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, ³Scientific Review Branch, NIAMS, NIH, Bethesda, MD, ⁴NIAMS/NIH, Bethesda, MD, ⁵Helios Kliniken - Kinderklinik, HELIOS Klinikum Krefeld, Krefeld, Germany, ⁶Pediatric Rheumatology, IWK Health Centre, Halifax, NS, Canada, ⁷Cardiovascular and Pulmonary Branch, NHLBI, NIH, Bethesda, MD, ⁸Laboratory of Clinical Infectious Disease, NIAID, NIH, Bethesda, MD, ⁹Radiology Department, Clinical Center, NIH, Bethesda, MD, ¹⁰Johns Hopkins All Children's Hospital Rheumatology, Saint Petersburg, FL, ¹¹Luis Calvo Mackenna Hospital, Santiago, Chile, ¹²UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹³Department of Pediatrics, Medical University Innsbruck, Innsbruck, Austria, ¹⁴University College London Institute of Child Health, London, United Kingdom, ¹⁵University Hospitals Bristol NHS Foundation Trust, Bristol, United Kingdom, ¹⁶Departments of Dermatology and Pediatrics, Feinberg School of Medicine, Northwestern University, Chicago, IL, USA;, Chicago, IL, ¹⁷Pediatrics, Walter Reed National Military Medical Center, Bethesda, MD, ¹⁸Department of Pediatrics, Division of Rheumatology, Hacettepe University Faculty of Medicine, ANKARA, Turkey, ¹⁹Laboratory of Cardiovascular Regenerative Medicine, National Heart, Lung, and Blood Institute (NHLBI), NIH, Bethesda, MD, ²⁰Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²¹Department of Pediatric Rheumatology and Immunology, University Hospital of Muenster, Münster, Germany
Background/Purpose: STING-Associated Vasculopathy with Onset in Infancy (SAVI) is a monogenic autoinflammatory interferonopathy caused by gain-of-function mutations in TMEM173/STING, a nucleic acid sensor adaptor linked…
Abstract Number: 2430 • 2016 ACR/ARHP Annual Meeting
Mutations in the Tyrosine-Protein Kinase Lyn Cause an Early-Onset Neutrophilic Vasculitis Syndrome
Adriana Almeida de Jesus¹, Gina A. Montealegre¹, Helen Freeman², Neil Martin³, Ebun Omoyinmi⁴, Bernadette Marrero¹, Katherine R. Calvo⁵, Chyi-Chia Richard Lee⁶, April D. Brundidge⁷, David Kleiner⁸, Stephen Hewitt⁸, Dawn C. Chapelle⁷, Yan Huang¹, Nirali Shah⁸, Stephen Brooks⁷, Eric Meffre⁹, Paul Brogan¹⁰, Hyesun Kuehn¹¹, Sergio Rosenzweig¹², Melinda Merchant⁸, Zuoming Deng⁷, Susan Moir¹³ and Raphaela Goldbach-Mansky¹⁴, ¹National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD, ²Raigmore Hospital, Inverness, United Kingdom, ³Royal Hospital for Children, Glasgow, United Kingdom, ⁴University College London Institute of Child Health, London, United Kingdom, ⁵Department of Laboratory Medicine, Hematology Section, National Institutes of Health Clinical Center, Bethesda, MD, ⁶Dermatopathology Section, Laboratory of Pathology, National Cancer Institute (NCI), National Institutes of Health (NIH), Bethesda, MD, ⁷NIAMS/NIH, Bethesda, MD, ⁸National Cancer Institute, NIH, Bethesda, MD, ⁹Department of Immunobiology, Yale University School of Medicine, New Haven, CT, ¹⁰UCL Institute of Child Health and Great Ormond Street Hospital NHS Foundation Trust, London, United Kingdom, ¹¹Department of Laboratory Medicine, Clinical Center, National Institutes of Health, Bethesda, MD, ¹²Department of Laboratory Medicine/NIH, Bethesda, MD, ¹³National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, ¹⁴Translational Autoinflammatory Disease Studies, National Institute of Allergy and Infectious Diseases (NIAID), NIH, Bethesda, MD
Background/Purpose: Tyrosine-protein kinase Lyn is a Src-family tyrosine kinase expressed by hematopoietic and non-hematopoietic cell types. Phosphorylation of a tyrosine residue at position 508 renders…

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