Results 41 to 50 of about 954 (158)

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

Type I and II Interferon Signalling Characterizes the Transcriptional Landscape of Sweet Syndrome

Experimental Dermatology, Volume 35, Issue 7, July 2026.
ABSTRACT Sweet syndrome (SS) is an autoinflammatory neutrophilic dermatosis characterized by abrupt‐onset inflammatory skin lesions and systemic symptoms, yet its molecular pathogenesis remains incompletely defined. To delineate disease‐specific inflammatory programmes, we performed NanoString‐based transcriptomic analysis of SS skin lesions and ...
Laura Calabrese, Chiara Moltrasio, Maurizio Romagnuolo, Pia‐Charlotte Stadler, Zeno Fiocco, Matthias Neulinger‐Muñoz, Rui Aoki, Martina D'Onghia, Pietro Rubegni, Katrin Kerl, Takashi K. Satoh, Angelo V. Marzano, Lars E. French   +12 more
wiley   +1 more source

Australian clinical practice guideline: diagnosis and treatment of idiopathic multicentric Castleman disease

Internal Medicine Journal, Volume 56, Issue 7, Page 1218-1239, July 2026.
Abstract Idiopathic multicentric Castleman disease (iMCD) is a rare condition. The pathogenesis is incompletely understood; however, interleukin‐6 (IL‐6) is a major mediator. The clinical presentation is heterogeneous, from mild constitutional symptoms to severe multi‐organ failure.
Dipti Talaulikar, Jun Yen Ng, Adam Bryant, Annmarie Bosco, Hugh C. Caterson, Pratyush Giri, Pravin Hissaria, Simon J. Harrison, Stephen Lade, Connull Leslie, Jacinta Perram, H. Miles Prince, Dejan Radeski, Maureen Rischmueller, Craig Wallington‐Gates, Nicholas Weber, Alberta Hoi   +16 more
wiley   +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

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

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

Candida oesophagitis as an Initial Manifestation of VEXAS Syndrome: Expanding Evidence for an Acquired Immunodeficiency Phenotype

eJHaem, Volume 7, Issue 4, August 2026.
Demi Rianne Vintges, Marina Weerheim, Faiz Karim   +2 more
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

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

Allergy, Volume 81, Issue 8, Page 2969-2971, August 2026.
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