Results 31 to 40 of about 929 (159)

VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia

Case Reports in Hematology, 2023
VEXAS syndrome stands for vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome. The syndrome is a combined hematological and rheumatological condition caused by a somatic mutation in the UBA1.
Janne Austestad, Tor Magne Madland, Miriam Sandnes, Torjan Magne Haslerud, Andreas Benneche, Håkon Reikvam   +5 more
doaj   +1 more source

VEXAS syndrome [PDF]

International Journal of Hematology, 2022
Kaori Uchino, Jo Kanasugi, Megumi Enomoto, Fumiya Kitamura, Naomi Tsuchida, Yuri Uchiyama, Ayaka Maeda, Yohei Kirino, Naomichi Matsumoto, Akiyoshi Takami   +9 more
  +5 more sources

Expanding the VEXAS diagnostic workup: the role of peripheral blood cytological analysis

Frontiers in Immunology
VEXAS syndrome is a newly described autoinflammatory entity characterized by somatic mutations in the UBA1 X-linked gene in hematopoietic progenitor cells.
Chiara Baggio, Chiara Baggio, Francesca Oliviero, Francesca Oliviero, Roberto Padoan, Roberto Padoan, Luca Iorio, Luca Iorio, Riccardo Bixio, Giovanni Orsolini, Eugenia Bertoldo, Eugenia Bertoldo, Cristina Bernardi, Davide Colavito, Barbara Paiero, Giovanna Pregnolato, Roberta Ramonda, Roberta Ramonda, Andrea Doria, Andrea Doria, Sara Bindoli, Sara Bindoli, Paolo Sfriso, Paolo Sfriso   +23 more
doaj   +1 more source

The heterogeneity of lung involvement in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome: a case of hypersensitivity pneumonitis-like pattern

Reumatismo
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a recently characterized disease associated with somatic mutations in the UBA1 gene, which cause dysregulation of ubiquitin-mediated processes.
C. Iannone, M.R. Pellico, C. Campochiaro, L. Tescaro, M. Zompatori, A. Caminati, S. Harari, R. Caporali   +7 more
doaj   +1 more source

A case of VEXAS syndrome presenting with unusual bone marrow granulomas: a diagnostic dilemma

BMC Rheumatology, 2023
Background VEXAS is a recently described inflammatory disease caused by mutations in the UBA1 gene. Symptoms are diverse and include fevers, cartilaginous inflammation, lung inflammation, vasculitis, neutrophilic dermatoses, and macrocytic anemia ...
Khiem T. Vu, Rachel M. Wolfe, Jonathan E. Lambird, Danielle L. V. Maracaja   +3 more
doaj   +1 more source

Case Report: Coexistence of Multiple Myeloma and Auricular Chondritis in VEXAS Syndrome

Frontiers in Immunology, 2022
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is an inflammatory disorder caused by somatic UBA1 variants, which are sometimes associated with hematological disorders, including myelodysplastic syndrome (MDS).
Haruki Matsumoto, Yuya Fujita, Masahiko Fukatsu, Takayuki Ikezoe, Kohei Yokose, Tomoyuki Asano, Naomi Tsuchida, Naomi Tsuchida, Naomi Tsuchida, Ayaka Maeda, Shuhei Yoshida, Honami Hashimoto, Jumpei Temmoku, Naoki Matsuoka, Makiko Yashiro-Furuya, Shuzo Sato, Mai Murakami, Hidenori Sato, Chiharu Sakuma, Kazumasa Kawashima, Norshalena Shakespear, Yuri Uchiyama, Yuri Uchiyama, Hiroshi Watanabe, Yohei Kirino, Naomichi Matsumoto, Kiyoshi Migita   +26 more
doaj   +1 more source

Think VEXAS: a case report of Vexas syndrome

Journal of Rare Diseases
AbstractVEXAS syndrome is a rare auto-inflammatory disorder characterized by heterogeneous inflammatory and hematologic features. First identified in 2020, it predominantly affects men over the age of 50. Clinical manifestations commonly include recurrent fever, weight loss, skin lesions, and diverse inflammatory presentations across multiple organ ...
T. Najdi, S. Karaa
openaire   +2 more sources

Improving Diagnosis and Clinical Management of Acquired Systemic Autoinflammatory Diseases

Journal of Inflammation Research, 2022
Adam Al-Hakim,1 Anoop Mistry,1 Sinisa Savic1,2 1Department of Clinical Immunology and Allergy, St James’s University Hospital, Leeds, UK; 2Leeds Institute of Rheumatic and Musculoskeletal Medicine, University of Leeds, Leeds, UKCorrespondence: Sinisa ...
Al-Hakim A, Mistry A, Savic S
doaj  

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

Internal Medicine Journal, EarlyView.
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

Case report: VEXAS syndrome and literature review

Frontiers in Hematology
VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) is a novel disorder first described in 2020. Patients are diagnosed by identifying a somatic mutation of the ubiquitin-like modifier-activating enzyme 1 (UBA1) gene.
Can Jones, Can Jones, Stanislav Ivanov, Pablo Ferraro, Pablo Ferraro, Souhad Younes, Souhad Younes, Hugo Fernandez   +7 more
doaj   +1 more source