Results 71 to 80 of about 865 (130)

Navigating therapeutic challenges in VEXAS syndrome: exploring IL-6 and JAK inhibitors at the forefront

Molecular Medicine
VEXAS syndrome, an uncommon yet severe autoimmune disorder stemming from a mutation in the UBA1 gene, is the focus of this paper. The overview encompasses its discovery, epidemiological traits, genetic underpinnings, and clinical presentations.
Xiao Xiao Li, Wen Hui Huang, Xiao Bin Yang, Qi Lin Yang, Yu Zheng, Yong Bao Huo, Ting Ting Xie, Cheng Hui Huang, Shui Lian Yu   +8 more
doaj   +1 more source

Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review

Cells
VEXAS syndrome, a monogenic X-linked disorder resulting from mutations in the UBA1 gene, has emerged as a key model for unraveling the links between systemic inflammatory or autoimmune diseases (SIAD) and myelodysplastic syndromes (MD).
Louis Wolff, Leo Caratsch, Lin-Pierre Zhao, Sabine Blum, Denis Comte   +4 more
doaj   +1 more source

Issue Information

Rheumatology &Autoimmunity, Volume 6, Issue 1, March 2026.
wiley   +1 more source

Successful treatment with fludarabine and cyclophosphamide in a VEXAS syndrome patient with associated myelodysplastic syndrome: a case report and systematic review

Frontiers in Oncology
Vacuoles, E1 syndrome, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a chronic inflammatory disorder that affects various organ systems. It is associated with hematologic malignancies and is generally refractory to therapies.
Polina Bellman, Jesus D. Gonzalez-Lugo, Moazzam Shahzad, Moazzam Shahzad, Muhammad Kashif Amin, Muhammad Fareed Khalid, Nahid Suleman, Nausheen Ahmed, Anurag K. Singh, Abdulraheem Yacoub, Da Zhang, Joseph P. McGuirk, Muhammad Umair Mushtaq   +12 more
doaj   +1 more source

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome presenting as recurrent aseptic peritonitis in a patient receiving peritoneal dialysis: a case report

BMC Nephrology
Background Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is caused by mutations in the ubiquitin-activating enzyme1 (UBA1) gene and characterised by an overlap between autoinflammatory and haematologic disorders.
Natsuki Fukuda, Daisuke Kanai, Kaoru Hoshino, Yuriko Fukuda, Ryutaro Morita, Yuki Ishikawa, Tomohiko Kanaoka, Yoshiyuki Toya, Yohei Kirino, Hiromichi Wakui, Kouichi Tamura   +10 more
doaj   +1 more source

Case report: VEXAS syndrome: first documented cases in Latin America

Frontiers in Hematology
IntroductionVEXAS syndrome (Vacuoles, E1 Enzyme, X-linked, Autoinflammatory, Somatic) is a recently identified disorder associated with somatic mutations in the UBA1 gene.
Carolina Ottati, Inés Gervaz, Inés Gervaz, Martín Yandian, Martín Yandian, Matilde Boada, Matilde Boada, Gabriela Vidal-Senmache, Percy Ortiz-Guerra, Ana I. Catalán, Patricia Kutscher, Diego Lopez, Lilian Diaz, Sofia Grille, Sofia Grille   +14 more
doaj   +1 more source

What should neurologists expect to observe in relapsing polychondritis and VEXAS?

Frontiers in Immunology
Relapsing polychondritis (RP) and VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) are two clinically overlapping conditions in which neurological complications remain uncommon.
Mickael Bonnan, Quang Tuan Rémy Nguyen, Etienne Crickx, Etienne Crickx   +3 more
doaj   +1 more source

Clinical features of immunodeficiency and severe infection in VEXAS syndrome: a case series

Discover Medicine
Background VEXAS syndrome is a recently described X-linked somatic autoinflammatory syndrome which manifests with exaggerated hyperinflammation, an MDS-like syndrome, and probable immunodeficiency. Objective The objective of this study is to describe the
Justin Smith, Dylan Johnson, Mohammed Osman, Jason Soo, Stephanie Keeling   +4 more
doaj   +1 more source

The Challenging and Unique Diagnosis of VEXAS Syndrome: A Case Report

Journal of Investigative Medicine High Impact Case Reports
VEXAS syndrome, a myeloid-driven autoinflammatory disorder associated with somatic mutations in the UBA1 gene, was first described in 2020 and presents significant diagnostic challenges due to its complex clinical features, including hematological ...
Jowan Al-Nusair, Olivia Lim, Leena Alhusari, Abdelwahap Elghezewi, Mahmoud Abdallah, Mohamed Alshal, Toni Pacioles   +6 more
doaj   +1 more source

Exploring glucocorticoid dose-response patterns in VEXAS syndrome: a pilot retrospective study. [PDF]

Rheumatol Int
Giachetti N, Hadjadj J, Gaudré N, Lavigne C, Lacombe V.   +4 more
europepmc   +1 more source