Results 31 to 40 of about 4,126 (198)

VEXAS: A review of current understandings and emerging treatment strategies [PDF]

Frontiers in Immunology
VEXAS (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic) syndrome is a late-onset autoinflammatory disorder, typically affecting males, caused by somatic mutations in the X-linked gene UBA1 encoding the E1 ubiquitin-activating enzyme.
Robert Holden, Yogeshraj Jeelall, Yogeshraj Jeelall, Andrew McLean-Tooke, Kylan Pathmanathan, David Nolan   +5 more
doaj   +2 more sources

Clinical Manifestations of VEXAS Syndrome Across a Broad Spectrum of UBA1 Mutation Burden. [PDF]

Arthritis Rheumatol
Anderson M, Ercelen D, Richardson A, Kim J, Torene RI, Sirenko M, Haley JS, Cook A, Hill W, Dove J, Retterer K, Carroll E, Carey DJ, Asgari S, Stewart DR, Beck DB.   +15 more
europepmc   +3 more sources

Case Report: VEXAS syndrome with extensive pulmonary, cardiac, and skeletal involvement [PDF]

Frontiers in Immunology
VEXAS syndrome is a rare and severe systemic inflammatory disorder caused by somatic mutations in the X-linked UBA1 gene, primarily affecting men. Since its initial description in 2020, it has been recognized for its complex clinical phenotype and ...
Zhongbiao Fang, Zhongbiao Fang, Tingwei Xu, Meng Zhang, Chaonan Li, Chaonan Li, Anwen Zheng, Yudan Gu, Yudan Gu, Chuhan Lan, Zongming Liu, Zongming Liu, Lingling Tang, Lingling Tang   +13 more
doaj   +2 more sources

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature [PDF]

Open Access Rheumatology: Research and Reviews
Zeinab Alnahas,1 Sujata Sarkar,1 Kevin T Trowell,1 Lisa Soltani,2 Sreekanth Vasireddy1 1Tucson Medical Center, Tucson, AZ, USA; 2El Rio Community Health Center, Tucson, AZ, USACorrespondence: Zeinab Alnahas, Tucson Medical Center, 5301 E Grant Road ...
Alnahas Z, Sarkar S, Trowell KT, Soltani L, Vasireddy S   +4 more
doaj   +2 more sources

BI03 The presence of VEXAS-related UBA1 mutation in a patient with myelodysplastic syndrome [PDF]

British Journal of Dermatology
Abstract A 56-year-old female patient with a background of myelo­dysplastic syndrome (MDS) was admitted with a febrile illness and a solitary, bullous skin lesion on her right inner thigh. This lesion started as a scaly patch 1 week prior to admission before developing into a large tense bulla with associated lymphadenopathy in the groin.
Evangelia Vetsiou, Arvindh Sekaran, Sarah McDonald, Charles Crawley, Andre Khoo   +4 more
openalex   +2 more sources

AB1275 SUGGESTED APPROACH TO UBA1 GENE MUTATION TESTING IN PATIENTS WITH SUSPECTED VEXAS SYNDROME [PDF]

Annals of the Rheumatic Diseases, 2022
Kateřina Pavelcová, Blanka Stibůrková, V. Balajková, M. Belickova, C. Salek, M. Vostry, H. Mann, J. Vencovský   +7 more
openalex   +2 more sources

Incidence, Clinical Associations, and Co-Mutation Patterns of UBA1 Mutations in MDS

Blood, 2022
Maria Sirenko, Elsa Bernard, David B. Beck, Maria Creignou, Dylan Domenico, Andrea Farina, Juan E. Arango, Olivier Kosmider, Robert P. Hasserjian, Martin Jädersten, Ulrich Germing, Guillermo Sanz, Arjan A. van de Loosdrecht, Matilde Y. Follo, Felicitas Thol, Lurdes Zamora, Ronald Feitosa Pinheiro, Andrea Pellagatti, Harold K. Elias, Detlef Haase, Christina Ganster, Lionel Adès, Magnus Tobiasson, Laura Palomo, Matteo Giovanni Della Porta, Kety Huberman, Pierre Fenaux, Monika Beličková, Michael R. Savona, Virginia M. Klimek, Fábio Pires de Souza Santos, Jacqueline Boultwood, Ιoannis Kotsianidis, Valeria Santini, Françesc Solé, Uwe Platzbecker, Michael Heuser, Peter Valent, Carlo Finelli, Maria Teresa Voso, Lee‐Yung Shih, Seishi Ogawa, Michaëla Fontenay, Joop H. Jansen, José Cervera, Benjamin L. Ebert, Rafael Bejar, Peter L. Greenberg, Norbert Gattermann, Luca Malcovati, Mario Cazzola, Eva Hellström‐Lindberg, Elli Papaemmanuil   +52 more
openalex   +3 more sources

Recurrent Mutations of the Active Adenylation Domain of UBA1 in Atypical Form of VEXAS Syndrome

HemaSphere, 2023
Alyx Faurel, Maël Heiblig, Olivier Kosmider, Jérôme Cornillon, Laurence Boudou, D Guyotat, Jean‐Alain Martignoles, Yvan Jamilloux, Pauline Noyel, Élisabeth Daguenet, Anne-Camille Faure, Pierre Sujobert, Pascale Flandrin‐Gresta   +12 more
openalex   +4 more sources

Hypomethylating agents in vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS): A systematic review. [PDF]

Br J Haematol
Summary VEXAS syndrome (vacuoles, E1 enzyme, X‐linked, autoinflammatory, somatic) is an X‐linked, systemic, haemato‐inflammatory syndrome caused by somatic mutations in the UBA1 gene. No standardized treatment guidelines exist, but evidence is emerging that treatment with hypomethylating agents (HMAs) can induce improvement of the inflammatory symptoms,
Hoff FW, Trikha R, Groarke EM, Patel BA.
europepmc   +2 more sources

Hemi-Orolingual Angioedema in a Patient With VEXAS Syndrome. [PDF]

EJHaem
eJHaem, Volume 7, Issue 1, February 2026.
Suárez EU, Arquero-Portero T, Llamas-Sillero P.   +2 more
europepmc   +2 more sources