Abstracts tagged "Autoinflammatory diseases"

Abstract Number: 2667 • ACR Convergence 2025
Amyloidosis Secondary to Familial Mediterranean Fever: Machine Learning Based Prediction Models
Berkay Aktas¹, Enes Azman¹, Yusuf Ecren Oner², kadir Kaya², husnu Mert Yuksel³, Ali Hosgel², Dilan Karahan², Zehra Beyza Coban², Kerem parlar⁴, Ozgur Can Kilinc¹, Beste Acar¹ and serdal Ugurlu⁵, ¹Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey, ²Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, Turkey, ³Istanbul University-Cerrahpasa, Istanbul, Turkey, Istanbul, Istanbul, Turkey, ⁴Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, İstanbul, Turkey, ⁵Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey
Background/Purpose: Familial Mediterranean Fever (FMF) is a monogenic autoinflammatory disease caused by MEFV mutations. Amyloidosis remains its most serious complication, with several risk factors reported…
Abstract Number: 2129 • ACR Convergence 2025
Distinct endotypes of SURF associated with clinical phenotypes, inflammatory cytokines, and treatment responses
Marci Macaraeg¹, Nadine Saad², Tiphanie Vogel³, Fatma Dedeoglu⁴, Kyle McBrearty⁴, Qin Sun⁵, Chunyan Liu⁵ and Grant Schulert⁵, ¹University of Arizona College of Medicine, Tucson, AZ, ²University of Michigan, Ann Arbor, MI, ³Baylor College of Medicine, Houston, TX, ⁴Boston Children's Hospital, Boston, MA, ⁵Cincinnati Children's Hospital Medical Center, Cincinnati, OH
Background/Purpose: Syndrome of Undifferentiated Recurrent Fevers (SURF) refers to patients with recurrent fevers who do not meet clinical or classification criteria for Periodic Fevers, Aphthous…
Abstract Number: 1669 • ACR Convergence 2025
Development and Validation of Minimal Disease Activity and Disease Flare for Children with Chronic Nonbacterial Osteomyelitis Using a Consensus and Data-Driven Approach
Farzana Nuruzzaman¹, Natalie Rossenwasser², Xing Wang³, Ava Klein³, Ian Muse⁴, Erin Balay-Dustrude⁵, Megan Nguyen⁶, Emily Deng³, Jonathan Akikusa⁷, Matthew Basiaga⁸, Lindsey Bergstrom⁹, Fatma Dedeoglu¹⁰, Bin Huang¹¹, Jenna King¹², Sivia Lapidus¹³, Tzielan Lee¹⁴, Aleksander Lenert¹⁵, Cassandra Levesque¹⁶, Lillian Lim¹⁷, Kimberly Martin¹⁸, Elizabeth Murray¹⁹, Melissa Oliver²⁰, Karen Onel²¹, Seza Özen²², Lauren Potts²³, Sara M. Stern²⁴, Robin Villaverda²⁵, Eveline Wu²⁶, Ronald laxer²⁷, Polly Ferguson²⁸, Daniel Lovell²⁹ and Yongdong (Dan) Zhao³⁰, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²Seattle Children's Hospital, Seattle, WA, ³Seattle Children's Hospital, Seattle, ⁴University of Washington, Department of Pediatrics, Seattle Children's Hospital, Seattle, ⁵University of Washington, Seattle, WA, ⁶Seattle Children’s Research Institute, Seattle, ⁷The Royal Children's Hospital, Parkville, Victoria, Australia, ⁸Mayo Clinic, Rochester, MN, ⁹Patient/parent research partner, Harpswell, ME, ¹⁰Boston Children's Hospital, Boston, MA, ¹¹Cincinnati Children's Hospital, Cinciannati, OH, ¹²Patient/parent Research Partner, Planation, FL, ¹³Joseph M. Sanzari Children's Hospital, Center for Discovery and Innovation, Hackensack Meridian School of Medicine, Montclair, NJ, ¹⁴Stanford University School of Medicine, Palo Alto, CA, ¹⁵Iowa Carver College of Medicine, Iowa City, IA, ¹⁶Patient/parent research partners, DC district, DC, ¹⁷University of Alberta, Edmonton, AB, Canada, ¹⁸Patient/parent research partners, Houston, TX, ¹⁹Patient/parent research partners, Lynnwood, WA, ²⁰Indiana University, Indianapolis, IN, ²¹HSS, New York, NY, ²²Hacettepe University Medical Faculty, Ankara, Turkey, ²³Patient/parent research partners, Santa Cruiz, CA, ²⁴University of Utah, Salt Lake City, UT, ²⁵Patient/parent research partners, Thorton, CO, ²⁶UNC Chapel Hill, Chapel Hill, NC, ²⁷The Hospital for Sick Children, Toronto, ON, Canada, ²⁸University of Iowa Carver College of Medicine, Iowa City, IA, ²⁹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³⁰Seattle Children’s Research Institute, Redmond, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory bone disease that can result in bone destruction/deformity, persistent bone pain and pathological fractures. Due to the…
Abstract Number: 1170 • ACR Convergence 2025
A20 Haploinsufficiency (HA20): TNFAIP3 Mutation Prevalence In A Clinically Compatible Cohort
María Alonso de Francisco¹, Emiliano González Vioque², Pablo Navarro Palomo³, Maria Machattou⁴, Carlota Navarro Joven⁴, Laura Ramos Ortiz de Zarate⁴, Alejandro Martínez⁵, Adriana Martín Bescós⁴, Paula Mazo⁴, María Concepción Sánchez Fernández⁴, Andrea Liso Andrino⁴, Maria Carmen Barbadillo Mateos⁶, JESUS SANZ SANZ⁷, Hildegarda Godoy Tundidor⁴, Jose Campos⁸, Monica Fernandez Castro⁹, Blanca García Magallón⁴, Olga Rusinovich¹⁰, Laura Nuño¹¹, Jose Luis Andreu¹² and Carolina Merino¹³, ¹H. U. Puerta de Hierro Majadahonda, Tres Cantos, Spain, ²Hospital Puerta de Hierro Majadahonda, Madrid, Spain, ³Hospital Universitario Puerta de Hierro Majadahonda., Majadahonda, Spain, ⁴Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Spain, ⁵Hospital Universitario Puerta de Hierro Majadahonda, Madrid, Afghanistan, ⁶Public, Madrid, Spain, ⁷SERMAS, Madrid, Spain, ⁸Hospital Universitario Principe de Asturias, Madrid, Spain, ⁹PUERTA DE HIERRO HOSPITAL, Madrid, Spain, ¹⁰Puerta de Hierro Majadahonda University Hospital, Boadilla del Monte, Spain, ¹¹Hospital Universitario Puerta de Hierro, Madrid, Spain, ¹²Hospital Universitario Puerta de Hierro, Majadahonda, Spain, ¹³Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain
Background/Purpose: Haploinsufficiency of A20 (HA20) is a disease at the crossroads between autoinflammation and autoimmunity, caused by heterozygous mutations in TNFAIP3, which encodes the A20…
Abstract Number: 0778 • ACR Convergence 2025
Clinical significance of non-infectious increased procalcitonin in Still’s disease: A predictor of macrophage activation syndrome
Erdem Bektas¹, Burcu Ceren Uludogan², Büşra Fırlatan Yazgan³, Ozgur Can Kilinc⁴, Beste Acar⁴, Oguzhan Omer Kizilkaya⁴, Aysenur Yilmaz⁵, Busra Yuce⁶, serdal Ugurlu⁷, Umut Kalyoncu³, Timucin Kasifoglu² and Cemal Bes⁸, ¹Istanbul University, Institute of Graduate Studies in Health Sciences, Immunology, Istanbul, Turkey, ²Division of Rheumatology, Department of Internal Medicine, Eskisehir Osmangazi University, Eskisehir, Turkey, ³Division of Rheumatology, Department of Internal Medicine, Hacettepe University School of Medicine, Ankara, Turkey, Ankara, Turkey, ⁴Cerrahpasa Faculty of Medicine, Istanbul University-Cerrahpasa, Istanbul, Turkey, ⁵Department of Rheumatology, Basaksehir Cam and Sakura City Hospital, University of Health Sciences, Istanbul, Turkey, ⁶Department of Internal Medicine, Basaksehir Cam and Sakura City Hospital, University of Health Sciences, Istanbul, Turkey, ⁷Istanbul University-Cerrahpasa, Department of Internal Medicine, Division of Rheumatology, Istanbul, Turkey, ⁸University of Health Sciences, Basaksehir Çam and Sakura City Hospital, Istanbul, Turkey
Background/Purpose: Still's disease (SD) is a autoinflammatory disease (AID) characterized by a wide range of clinical manifestations and can exhibit life-threatening macrophage activation syndrome (MAS).…
Abstract Number: 2666 • ACR Convergence 2025
Rare TNFAIP3 Hypomorphic Variants are a Massively Underestimated Driver of Human Autoinflammatory Disease
Danica Lee¹, Urekha Karri², Yiming Luo³, Kader Cetin Gedik⁴, Manuel Carpio Tumba⁵, Prabal Chhibbar⁶, Priyamvada Roy⁶, Guido Falduto⁷, Jishnu Das⁵ and Daniella Schwartz⁵, ¹University of Pittsburgh School of Medicine, Pittsburgh, PA, ²School of public health, Pittsburgh, PA, ³Columbia University, New York, NY, ⁴UPMC Children's Hospital of Pittsburgh/University of Pittsburgh, Pittsburgh, PA, ⁵University of Pittsburgh, Pittsburgh, PA, ⁶University of Pittsburgh School of Medicine, Pittsburgh, ⁷University of Pittsburgh Medical Center, Pittsburgh, PA
Background/Purpose: TNFAIP3 encodes the ubiquitin editing enzyme A20, which inhibits multiple proinflammatory signaling pathways. Heterozygous germline mutations in TNFAIP3 cause the autoinflammatory disease Haploinsufficiency of…
Abstract Number: 2125 • ACR Convergence 2025
Development and Validation of Minimal Clinically Important Difference for Children with Chronic Nonbacterial Osteomyelitis Using a Consensus and Data-Driven Approach
Farzana Nuruzzaman¹, Natalie Rosenwasser², Xing Wang³, Ava Klein³, Ian Muse⁴, Erin Balay-Dustrude⁵, Megan Nguyen⁶, Emily Deng³, Jonathan Akikusa⁷, Matthew Basiaga⁸, Lindsey Bergstrom⁹, Fatma Dedeoglu¹⁰, Bin Huang¹¹, Jenna King¹², Sivia Lapidus¹³, Tzielan Lee¹⁴, Cassandra Levesque¹⁵, Aleksander Lenert¹⁶, Lillian Lim¹⁷, Kimberly Martin¹⁸, Elizabeth Murray¹⁹, Melissa Oliver²⁰, Karen Onel²¹, Seza Özen²², Lauren Potts²³, Sara M. Stern²⁴, Robin Villaverda²⁵, Eveline Wu²⁶, Ronald laxer²⁷, Polly Ferguson²⁸, Daniel Lovell²⁹ and Yongdong (Dan) Zhao³⁰, ¹Stony Brook Children's Hospital, Stony Brook, NY, ²Seattle Children's Hospital, seattle, WA, ³Seattle Children's Hospital, Seattle, ⁴University of Washington, Department of Pediatrics, Seattle Children's Hospital, Seattle, ⁵University of Washington, Seattle, WA, ⁶Seattle Children’s Research Institute, Seattle, ⁷The Royal Children's Hospital, Parkville, Victoria, Australia, ⁸Mayo Clinic, Rochester, MN, ⁹Patient/parent research partner, Harpswell, ME, ¹⁰Boston Children's Hospital, Boston, MA, ¹¹Cincinnati Children's Hospital, Cinciannati, OH, ¹²Patient/parent Research Partner, Planation, FL, ¹³Joseph M. Sanzari Children's Hospital, Center for Discovery and Innovation, Hackensack Meridian School of Medicine, Montclair, NJ, ¹⁴Stanford University School of Medicine, Palo Alto, CA, ¹⁵Patient/parent research partners, DC district, DC, ¹⁶Iowa Carver College of Medicine, Iowa City, IA, ¹⁷University of Alberta, Edmonton, AB, Canada, ¹⁸Patient/parent research partners, Houston, TX, ¹⁹Patient/parent research partners, Lynnwood, WA, ²⁰Indiana University, Indianapolis, IN, ²¹HSS, New York, NY, ²²Hacettepe University Medical Faculty, Ankara, Turkey, ²³Patient/parent research partners, Santa Cruiz, CA, ²⁴University of Utah, Salt Lake City, UT, ²⁵Patient/parent research partners, Thorton, CO, ²⁶UNC Chapel Hill, Chapel Hill, NC, ²⁷The Hospital for Sick Children, Toronto, ON, Canada, ²⁸University of Iowa Carver College of Medicine, Iowa City, IA, ²⁹Cincinnati Children's Hospital Medical Center, Cincinnati, OH, ³⁰Seattle Children’s Research Institute, Redmond, WA
Background/Purpose: Chronic nonbacterial osteomyelitis (CNO) is an inflammatory bone disease that can result in bone deformity, persistent pain and pathological fractures which is frequently treated…
Abstract Number: 1670 • ACR Convergence 2025
Large Retrospective Cohort Study Of Chronic Recurrent Multifocal Osteomyelitis: Disease Presentation, Clinical, And Laboratory Features
Shima Yasin¹, Shima Yasin² and Polly Ferguson³, ¹King Abdullah Specialized Children’s Hospital,Ministry of National Guard Health Affairs, Jeddah, Saudi Arabia, ²Univeristy of Iowa, Iowa City, ³University of Iowa Carver College of Medicine, Iowa City, IA
Background/Purpose: Chronic recurrent multifocal osteomyelitis (CRMO) is an autoinflammatory bone disease that affects children and adolescents. The disease typically presents with bone pain with or…
Abstract Number: 1169 • ACR Convergence 2025
Periodontitis in neutropenic DADA2 patients
Lorena Wilson¹, Amanda Ombrello², Patrycja Hoffmann³, Cornelia Cudrici³, Tina Romeo⁴ and Daniel L. Kastner⁵, ¹National Institutes of Health, Silver Spring, ²National Institutes of Health, Rockville, MD, ³National Insitutes of Health, Bethesda, ⁴NIH, Bethesda, MD, ⁵National Human Genome research Institute (NHGRI), National Institutes of Health (NIH), Bethesda
Background/Purpose: Deficiency of adenosine deaminase 2 (DADA2) is an autosomal recessive disease caused by pathogenic mutations in ADA2. Severe and refractory neutropenia is a hematologic…
Abstract Number: 0494 • ACR Convergence 2025
LFD-200, an Antibody Drug Conjugate that Selectively Delivers a Glucocorticoid Payload to Immune Cells, Provides Sustained Anti-inflammatory Effects Without Systemic Toxicity in Non-human Primates
Matt McClure¹, Catherine Carriere¹, Kierstin Bell¹, Rex Williams², Geoff Kuesters², Emily Sansevere², Dave Nichols², Arthur Tzianabos² and Jay Rothstein¹, ¹Lifordi Immunotherapeutics, Lebanon, NH, ²Lifordi Immunotherapeutics, Burlington, MA
Background/Purpose: Glucocorticoids (GCs) are the most versatile and efficacious anti-inflammatory drugs rheumatologists have available for patients. Unfortunately, prolonged systemic GC exposure leads to unacceptable toxicities,…
Abstract Number: 2608 • ACR Convergence 2025
Metabolic dysfunction-Associated Steatotic Liver Disease, Cardiometabolic Risk Factors, and Cardiac Manifestations in Psoriasis
Maria Dons¹, Charlotte Näslund-Koch², Morten Sengeløv³, Sofie Bøgh-Sørensen³, Kristoffer Skaarup³, Marianne Bengtson Løvendorf⁴, Filip Davidovski³, Anne Marie Reimer Jensen³, Brittany Weber⁵, Lise Lotte Gluud⁶, Claus Zachariae², Lone Skov² and Tor Biering-Sørensen³, ¹Copenhagen University Hospital Gentofte, Copenhagen, Hovedstaden, Denmark, ²Dep. of Dermatology and Allergy, Copenhagen University Hospital – Herlev & Gentofte, Copenhagen, Hovedstaden, Denmark, ³Center for Translational Cardiology and Pragmatic Randomized Trials, Dep. of Cardiology, Copenhagen University Hospital - Gentofte, Copenhagen, Hovedstaden, Denmark, ⁴Department of Dermatology and Allergy, Copenhagen University Hospital – Herlev & Gentofte, Copenhagen, Hovedstaden, Denmark, ⁵Brigham and Women's Hospital, DEDHAM, MA, ⁶Gastro Unit, Copenhagen University Hospital – Hvidovre, Copenhagen, Hovedstaden, Denmark
Background/Purpose: Metabolic dysfunction-associated steatotic liver disease (MASLD) is increasingly recognized as a cardiometabolic risk factor. Individuals with psoriasis have a high prevalence of MASLD, yet…
Abstract Number: 2046 • ACR Convergence 2025
Utilization of the All of Us Research Program to Study the Impact of Genetic Background on Autoinflammatory Diseases
Song Wu¹, Zuoming Deng², Peter Gorevic¹ and Qingping Yao¹, ¹Stony Brook University, Stony Brook, NY, ²Biodata Mining and Discovery Section, National Institute of Arthritis and Musculoskeletal and Skin Diseases, National Institutes of Health, Bethesda, MD
Background/Purpose: A widely recognized model of disease pathogenesis is the potential interplay of gene x gene x environment. Low penetrance variants in the NOD-like receptor…
Abstract Number: 1667 • ACR Convergence 2025
Recurrent or Incident Pericarditis With Concurrent Autoimmune Disease: Stable Control With Rilonacept Interleukin-1 Pathway Inhibition
Zachary Daniel¹, Summia Afridi¹, Michael Allen² and Khoa Ngo¹, ¹Albany Medical College, Albany, NY, ²Albany Med, Albany, NY
Background/Purpose: Up to 30% of patients with incident pericarditis will develop recurrent pericarditis (RP), with severe impact on quality of life. More than 20% of…
Abstract Number: 1166 • ACR Convergence 2025
Biomarkers Associated with Left Atrial Structure and Function in Individuals with Psoriasis
Julie Borchsenius¹, Maria Dons², Morten Sengeløv³, Flemming Olsen⁴, Caroline Espersen⁴, Kristoffer Skaarup³, Mats Lassen⁴, Niklas Johansen⁴, Filip Davidovski³, Manan Pareek⁴, Brittany Weber⁵, Claus Zachariae⁶, Lone Skov⁶ and Tor Biering-Sørensen³, ¹CTCPR / Center for translational cardiology and pragmatic research trials, Charlottenlund, Denmark, ²Copenhagen University Hospital Gentofte, Copenhagen, Hovedstaden, Denmark, ³Center for Translational Cardiology and Pragmatic Randomized Trials, Dep. of Cardiology, Copenhagen University Hospital - Gentofte, Copenhagen, Hovedstaden, Denmark, ⁴CTCPR / Center for translational cardiology and pragmatic research trials, Copenhagen, Denmark, ⁵Brigham and Women's Hospital, DEDHAM, MA, ⁶Dep. of Dermatology and Allergy, Copenhagen University Hospital – Herlev & Gentofte, Copenhagen, Hovedstaden, Denmark
Background/Purpose: Individuals with psoriasis are at increased risk of developing heart disease. Echocardiographic parameters of impaired left atrial (LA) strain (Peak atrial contraction and longitudinal…
Abstract Number: 0269 • ACR Convergence 2025
Clinical Landscape and Severity Markers of VEXAS Syndrome in a Spanish Cohort: Findings from VEXASSER Study Group
Paula García-Escudero¹, Marta López², Berta Magallares³, Dolly Viviana Fiallo Suárez⁴, Diego Dios Santos⁵, César Antonio Egües Dubuc⁶, Santos Castañeda⁷, Alicia Garcia⁸, Isla Morante Bolado⁹, Elena María Oliver García¹⁰, Clara Garcia Belando¹¹, Cristina Corrales¹², Francisco Javier Toyos¹³, Judit Font-Urgelles¹⁴, Meritxell Salles Lizarzaburu¹⁵, Carolina Merino¹⁶, Irene Carrion¹⁷, Jose Angel Hernandez¹⁸, Lourdes Villalobos¹⁹, Alina-Lucica Boteanu²⁰, Beatriz Frade Sosa²¹, cristiana Sieiro²², Irene Monjo Henry²³, Ernesto Trallero²⁴, Eugenia Enriquez²⁵, Maria Rodriguez²⁶, Elena Riera Alonso²⁷, Marta Ibañez²⁸, Delia Reina²⁹, Rafael Benito Melero González³⁰, Giuliano Boselli³¹, Alberto Mariano³², Ignacio Vázquez Gómez³³, Jose Alberto Miranda³⁴, Clara Moriano³⁵, Elena Aurrecoechea³⁶, Paloma Vela Casasempere³⁷, Iñigo Rúa-Figueroa³⁸ and Jaime Calvo³⁹, ¹Hospital Universitario Álava, Bilbao, Spain, ²Complex Hospitalari Universitari Moisés Broggi, Barcelona, Spain, ³Hospital de Sant Pau, Bareclona, ⁴H.U. Doctor Negrín, Gran Canarias, ⁵C. H. U. A Coruña, A Coruña, Spain, ⁶Rheumatology Department, Donostia University Hospital., San Sebastian, Spain, ⁷Hospital Universitario de La Princesa, IIS-Princesa, Madrid, Madrid, Spain, ⁸Rheumatologist, La Laguna, Spain, ⁹Rheumatology, Hospital General Sierrallana, Torrelavega, Spain., Santander, ¹⁰H.C. U. Lozano Blesa, Zaragoza, ¹¹H.C. U. Virgen de la arrizaca, Murcia, ¹²HOSPITAL UNIVERSITARIO MARQUES DE VALDECILLA, Santander, Spain, ¹³Virgen Macarena University Hospital,, Sevilla, Spain, ¹⁴Hospital Universitari Germans Trias i Pujol, Badalona, Spain, ¹⁵Rheumatology Department, Althaia Xarxa Assistencial Universitària Manresa Manresa (Spain)., Manresa, Spain, ¹⁶Rheumatology department. Hospital Universitario Puerta de Hierro Majadahonda, Majadahonda (Madrid), Madrid, Spain, ¹⁷Hospital del Mar, Barcelona, Spain, ¹⁸Hospital Universitario Insular de Gran Canaria, Las Palmas de Gran CanariaHospital, Spain, ¹⁹Ramon y Cajal Hospital, MADRID, Spain, ²⁰H.U. Ramón y Cajal, Madrid, Spain, ²¹Hospital Clinic de Barcelona, Barcelona, Catalonia, Spain, ²²Univrsity of Manchester, Manchester, United Kingdom, ²³Hospital Universitario La Paz, Madrid, Spain, ²⁴H. U. Vall d'Hebron, Barcelona, ²⁵Clínica Universidad de Navarra, Madrid, Spain, ²⁶H. Clínico San Carlos, Madrid, Spain, ²⁷Hospital Universitari Mùtua Terrassa, Terrassa, Spain, ²⁸Hospital Universitario de la Santa Creu i Sant Pau, Barcelona, Catalonia, Spain, ²⁹Complex Hospitalari Moisès Broggi, Barcelona, Spain, ³⁰C. H. U. de Ourense, Ourense, ³¹Rheumatology Division, Hospital Universitario Miguel Servet , Zaragoza, Spain, Zaragoza, Aragon, Spain, ³²Virgen del Rocío University Hospital, Sevilla, Spain, ³³H.U. Doctor Peset, Valencia, ³⁴C. H. U. Lucus Augusti, Lugo, Spain, ³⁵Hospital León, LEON, Castilla y Leon, Spain, ³⁶H. Sierrallana, Santander, ³⁷Hospital General Universitario Alicante, Alicante, Comunidad Valenciana, Spain, ³⁸Hospital de Gran Canaria Doctor Negrin, Las Palmas GC, Spain, ³⁹Department of Rheumatology, Hospital Universitario Araba, School of Medicne, Universidad del País Vasco, BIOARABA Health Research Institute, Vitoria, Spain, Vitoria, Pais Vasco, Spain
Background/Purpose: VEXAS syndrome is a rare disease caused by somatic mutations in UBA1 gene. Different mutations in this gene appear to be associated with specific…

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