Complex somatic mutation landscape in myeloid cells in a patient with VEXAS syndrome: First Brazilian case report

Complex somatic mutation landscape in myeloid cells in a patient with VEXAS syndrome: First Brazilian case report

Saved in:

Bibliographic Details
Main Authors:	Fabíola Reis de Oliveira, Adriane Souza Lima, Carlos Roberto Faria, Jr, Thaise Oliveira Quaresma, Marcio M. Mourani, Lauro Wichert-Ana, Paulo Louzada, Jr, Fernanda Gutierrez-Rodrigues, Neal S. Young, Rodrigo T. Calado
Format:	Article
Language:	English
Published:	Elsevier 2025-01-01
Series:	Hematology, Transfusion and Cell Therapy
Online Access:	http://www.sciencedirect.com/science/article/pii/S2531137924003171
Tags:	Add Tag No Tags, Be the first to tag this record!

Similar Items

Think VEXAS: a case report of Vexas syndrome
by: T. Najdi, et al.
Published: (2024-11-01)

A Case of VEXAS (Vacuoles, E1 Enzyme, X-Linked, Autoinflammatory, Somatic) Syndrome With Cardiac Involvement
by: Xiaocao Xu, et al.
Published: (2024-05-01)

Results of various somatic mutations detection in patients with chronic myeloid leukemia
by: E. A. Kuzmina, et al.
Published: (2024-12-01)

VEXAS Syndrome: An Overlooked Threat
by: Serdal Uğurlu, et al.
Published: (2025-05-01)

Unveiling VEXAS Syndrome: When Skin Manifestations and Monoclonal Gammopathy Precede Myeloid‐Lineage Hematologic Abnormality
by: Laura Di Centa, et al.
Published: (2025-06-01)

VEXAS Syndrome and Alzheimer’s Disease—Are There Connections?
by: Aleksandra Sowa, et al.
Published: (2025-05-01)

VEXAS, Chediak–Higashi syndrome and Danon disease: myeloid cell endo-lysosomal pathway dysfunction as a common denominator?
by: Coline Savy, et al.
Published: (2025-01-01)

VEXAS syndrome caused by a UBA1 mutation is complicated by recurrent infections leading to hemophagocytic lymphohistiocytosis
by: Yu Tang, et al.
Published: (2025-09-01)

Digital Track Map for the VEXA expert system
by: Adam Hlubuček
Published: (2022-05-01)

Is immunotherapy safe and effective in patients with VEXAS syndrome?
by: Chiara Marvisi, et al.
Published: (2025-07-01)

Case report: VEXAS syndrome and literature review
by: Can Jones, et al.
Published: (2024-11-01)

VEXAS Syndrome in a Patient with Myeloproliferative Neoplasia
by: Janne Austestad, et al.
Published: (2023-01-01)

VEXAS syndrome: on the threshold of changing perceptions of known diseases
by: B. D. Chaltsev, et al.
Published: (2023-12-01)

Macrocytic Anemia: A Presenting Feature of VEXAS Syndrome
by: Indira Acharya, et al.
Published: (2024-06-01)

A Clinicopathological Description of Kidney Features in VEXAS Syndrome
by: Martin Mathurin, et al.
Published: (2025-01-01)

Very long-term remission with azacitidine in VEXAS syndrome
by: Lin-Pierre Zhao, et al.
Published: (2025-01-01)

VEXAS syndrome: a Swiss national retrospective cohort study
by: Louis Wolff, et al.
Published: (2024-03-01)

VEXAS: A review of current understandings and emerging treatment strategies
by: Robert Holden, et al.
Published: (2025-07-01)

Somatic mutations in intracranial arteriovenous malformations.
by: Jeremy A Goss, et al.
Published: (2019-01-01)

In depth transcriptomic profiling defines a landscape of dysfunctional immune responses in patients with VEXAS syndrome
by: Hiroki Mizumaki, et al.
Published: (2025-05-01)

Promise of Jak Inhibition in the Management of VEXAS, Case Report with Review of the Literature
by: Alnahas Z, et al.
Published: (2025-07-01)

Understanding Myelodysplasia and Inflammation Through the Lense of VEXAS Syndrome: A Review
by: Louis Wolff, et al.
Published: (2024-11-01)

DETECTION OF SOMATIC MUTATIONS IN THE BRAF GENE BY PYROSEQUENCING
by: O. P. Dribnokhodova, et al.
Published: (2021-10-01)

Effects of Somatic Mutations Are Associated with SNP in the Progression of Individual Acute Myeloid Leukemia Patient: The Two-Hit Theory Explains Inherited Predisposition to Pathogenesis
by: Soyoung Park, et al.
Published: (2013-03-01)

LANDSCAPE OF SOMATIC MUTATIONS OF MYELOPROLIFERATIVE NEOPLASMS IN PAKISTANI PATIENTS
by: Mehreen Ali Khan
Published: (2025-07-01)

Characterization of Somatic Mutations in Malaysian Luminal Breast Cancer
by: Yock Ping Chow, et al.
Published: (2018-12-01)

VEXAS syndrome in a Moroccan patient: the story of a two-year diagnostic lag
by: Abire Allaoui, et al.
Published: (2025-06-01)

ERRATUM: Acknowledgments Correction. Annotation of Genes Having Candidate Somatic Mutations in Acute Myeloid Leukemia with Whole-Exome Sequencing Using Concept Lattice Analysis
by: Kye Hwa Lee, et al.
Published: (2013-06-01)

O06: Evaluation of somatic genetic testing as a screening tool to detect hereditary cancer predisposition in patients diagnosed with myeloid malignancies
by: Emily Teranishi, et al.
Published: (2025-01-01)

How Protein Ubiquitination Can Influence Cytokine Expression—Updated Review on Autoinflammatory VEXAS Syndrome
by: Dominika Majer, et al.
Published: (2024-09-01)

Do Somatic Mitochondrial DNA Mutations Contribute to Parkinson's Disease?
by: Joanne Clark, et al.
Published: (2011-01-01)

Functional annotation of the Hippo pathway somatic mutations in human cancers
by: Han Han, et al.
Published: (2024-11-01)

Somatic Mutations During an Immune Response inXenopus Tadpoles
by: Melanie Wilson, et al.
Published: (1995-01-01)

Somatic mutations in exocrine pancreatic tumors: association with patient survival.
by: P Sivaramakrishna Rachakonda, et al.
Published: (2013-01-01)

Somatic LKB1 mutations promote cervical cancer progression.
by: Shana N Wingo, et al.
Published: (2009-01-01)

Characterizing somatic mutations in ovarian cancer germline risk regions
by: Ping-Hung Lai, et al.
Published: (2025-04-01)

Mutational landscape of epidermoid carcinoma of the penis in a Brazilian cohort
by: Renato Mendes Rossi De Lucca, et al.
Published: (2025-06-01)

Genetic Mutations in Acute Myeloid Leukemia
by: OV Blau
Published: (2016-07-01)

Efficacy of erythroid‐stimulating agent and luspatercept in VEXAS syndrome: A multicenter retrospective study by the FRENVEX group
by: Maël Heiblig, et al.
Published: (2025-06-01)

Somatically mutated ABL1 is an actionable and essential NSCLC survival gene
by: Ewelina Testoni, et al.
Published: (2016-01-01)