Results 41 to 50 of about 929 (159)

A patient with VEXAS syndrome presenting with complete ophthalmoplegia

European Journal of Case Reports in Internal Medicine
Introduction: VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is a recently identified, somatic mutation-driven, autoinflammatory syndrome primarily affecting older males.
James Krzowski, Luke Harvey, Emily Mitchell, Vivek Rajagopal   +3 more
doaj   +1 more source

A Novel Use of Anifrolumab for a Novel Disease

ACR Open Rheumatology, Volume 8, Issue 5, May 2026.
Objective To explore the potential role of type‐I interferon (IFN‐I) signaling in autoimmune cytopenias outside the context of systemic lupus erythematosus (SLE), and to evaluate the clinical response to off‐label anifrolumab in two patients with fatigue and immune‐mediated cytopenias who did not meet established criteria for SLE.
Zachary Holtz, Adam Schulz, Alexa Meara
wiley   +1 more source

Severe Adult HLH/MAS With SPTCL‐Like Panniculitis: A Phenotype‐Guided, Resource‐Adapted Therapeutic Strategy Without Cytotoxic Therapy

Clinical Case Reports, Volume 14, Issue 5, May 2026.
Graphical abstract illustrating the phenotype‐guided therapeutic approach in severe adult HLH/MAS with SPTCL‐like panniculitis, demonstrating clinical and biochemical response following sequential treatment with therapeutic plasma exchange, intravenous immunoglobulin, and cyclosporine.
Hatem Mousa Taha, Omar Marouf, Khaled Hatem Taha   +2 more
wiley   +1 more source

VEXAS syndrome in a female with constitutional monosomy X

EULAR Rheumatology Open
: The VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome is an autoinflammatory disorder that is caused by an acquired deficiency of the UBA1 gene in haematopoietic progenitor cells and predominantly affects elderly males. However,
Nikolas Ruffer, Simon Melderis, Olaf Determann, Lana Harder, Isabell Haase, Ina Kötter, Anja Lüdemann, Martin Krusche   +7 more
doaj   +1 more source

Case Report: VEXAS Syndrome: From Mild Symptoms to Life-Threatening Macrophage Activation Syndrome

Frontiers in Immunology, 2021
Recently, a novel disorder coined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was identified in patients with adult-onset inflammatory syndromes, often accompanied by myelodysplastic syndrome1.
Frederik Staels, Frederik Staels, Albrecht Betrains, Albrecht Betrains, F. J. Sherida H. Woei-A-Jin, F. J. Sherida H. Woei-A-Jin, Nancy Boeckx, Nancy Boeckx, Marielle Beckers, Marielle Beckers, An Bervoets, An Bervoets, Mathijs Willemsen, Mathijs Willemsen, Barbara Neerinckx, Barbara Neerinckx, Stephanie Humblet-Baron, Daniel Engelbert Blockmans, Daniel Engelbert Blockmans, Steven Vanderschueren, Steven Vanderschueren, Rik Schrijvers, Rik Schrijvers, Rik Schrijvers   +23 more
doaj   +1 more source

A Case of VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome With Cardiac Involvement

Annals of Internal Medicine: Clinical Cases
VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome was first described in late 2020. It occurs as the result of somatic mutations in the ubiquitin-activating enzyme UBA1.
Xiaocao Xu, Najiya Haque, Chiamaka Onah, Lauren Dudley   +3 more
doaj   +1 more source

American College of Rheumatology Guidance Statement for Diagnosis and Management of VEXAS Developed by the International VEXAS Working Group Expert Panel

Arthritis &Rheumatology, Volume 78, Issue 3, Page 509-522, March 2026.
Objective Vacuoles E1 enzyme X‐linked autoinflammatory somatic syndrome (VEXAS) is a recently identified rare genetic disorder associated with somatic mutations in the UBA1 gene. VEXAS presents with a combination of inflammatory and hematologic manifestations, leading to increased morbidity and mortality.
Arsene Mekinian, Sophie Georgin‐Lavialle, Marcela A. Ferrada, Sinisa Savic, Matthew J. Koster, Olivier Kosmider, Thibault Comont, Mael Heiblig, Juan I. Arostegui, Annmarie Bosco, Rim Bourguiba, Katherine R. Calvo, Catherine Cargo, Chiara Cattaneo, François Chasset, Henrique Coelho, Corrado Campochiaro, Francesca Crisafulli, Stephanie Ducharme‐Benard, Raquel Faria, Franco Franceschini, Micol Frassi, Emma M. Groarke, Carmelo Gurnari, Yervand Hakobyan, Yvan Jamilloux, Ciprian Jurcut, Yohei Kirino, Austin Kulasekararaj, Hiroyoshi Kunimoto, Lauren M. Madigan, Heřman F. Mann, Chiara Marvisi, Marcin Milchert, Sara Morais, Katja Sockel, Francesco Muratore, Hideaki Nakajima, Mrinal M. Patnaik, Luísa Regadas, Marie Robin, Abraham Rutgers, Carlo Salvarani, Anthony M. Sammel, Joerg Seebach, Pierre Sujobert, Alessandro Tomelleri, Geoffrey Urbanski, Frédéric Vandergheynst, Romana Vieira, David S. Viswanatha, Ewa Więsik‐Szewczyk, Elisa Diral, Benjamin Terrier, Bhavisha A. Patel, Pierre Fenaux, Peter C. Grayson, David B. Beck, on behalf of the International VEXAS working group, and with endorsement of EuroBloodNet, the European Reference Network in Rare Hematological Diseases, Heřman Mann, Benjamin Terrier, François Chasset, Sophie Georgin Lavialle, Alessandro Tomelleri, Campochiaro Corrado, Carlo Salvarani, Francesca Crisafulli, Franco Franceschini, Micol Frassi, Yohei Kirino, Ewa Więsik‐Szewczyk, Marcin Milchert, Raquel Faria, Ciprian Jurcut, Joerg Seebach, Sinisa Savic, David Beck, Lauren Madigan, Matthew Koster, Patnaik Mrinal, Olivier Kosmider, Pierre Sujobert, Juan I. Arostegui, Catherine Cargo, David Viswanatha, Yervand Hagopian, Mael Heilblig, Pierre Fenaux, Thibault Comont, Bruno Alessandro, Chiara Cattaneo, Elisa Diral, Sara Morais, Austin Kulasekarara, Emma Groarke, Katherine Calvo, Patel Bhavisha, Anthony Sammel, Arsene Mekinian, Benjamin Terrier, Marie Robin, Sophie Georgin Lavialle, Katja Sockel, Yvan Jamilloux, Carmelo Gurnari, Henrique Coelho, Romana Vieira, Rim Bourguiba, Marcela Ferrada, Peter Grayson   +111 more
wiley   +1 more source

Schnitzler Syndrome as an Autoinflammatory Disease Driven by B‐Cell‐Specific Somatic MYD88 Mutation

Allergy, EarlyView.
Yuyi Zhou, Yoko Ueki, Naoya Iwata, Hiroshi Oue, Kentaro Kato, Mengyan Li, Kazushi Izawa, Tomoyasu Jo, Seishi Ogawa, Kenji Kabashima, Naotomo Kambe   +10 more
wiley   +1 more source

VEXAS syndrome is characterized by inflammasome activation and monocyte dysregulation

Nature Communications
Acquired mutations in the UBA1 gene were recently identified in patients with severe adult-onset auto-inflammatory syndrome called VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic). However, the precise physiological and clinical impact of
Olivier Kosmider, Céline Possémé, Marie Templé, Aurélien Corneau, Francesco Carbone, Eugénie Duroyon, Paul Breillat, Twinu-Wilson Chirayath, Bénédicte Oules, Pierre Sohier, Marine Luka, Camille Gobeaux, Estibaliz Lazaro, Roderau Outh, Guillaume Le Guenno, François Lifermann, Marie Berleur, Melchior Le Mene, Chloé Friedrich, Cédric Lenormand, Thierry Weitten, Vivien Guillotin, Barbara Burroni, Jeremy Boussier, Lise Willems, Selim Aractingi, Léa Dionet, Pierre-Louis Tharaux, Béatrice Vergier, Pierre Raynaud, Hang-Korng Ea, Mickael Ménager, Darragh Duffy, Benjamin Terrier   +33 more
doaj   +1 more source

Distinct Pattern of Atypical Megakaryocytes in VEXAS Syndrome

International Journal of Laboratory Hematology, EarlyView.
Andrew Y. Sung, Jackson W. Douglas, Olga K. Weinberg, Sharon K. Germans, Weina Chen   +4 more
wiley   +1 more source