VEXAS syndrome

VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms. Myeloid-driven autoinflammation and progressive bone marrow fai...

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Detalles Bibliográficos
Autores principales: Grayson, Peter C., Patel, Bhavisha A., Young, Neal S.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: American Society of Hematology 2021
Materias:
Blood Spotlight
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462403/
https://www.ncbi.nlm.nih.gov/pubmed/33971000
http://dx.doi.org/10.1182/blood.2021011455
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author Grayson, Peter C.
Patel, Bhavisha A.
Young, Neal S.
author_facet Grayson, Peter C.
Patel, Bhavisha A.
Young, Neal S.
author_sort Grayson, Peter C.
collection PubMed
description VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms. Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments need to be identified. Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiology. VEXAS syndrome represents a prototype for a new class of diseases.
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spelling pubmed-84624032022-07-01 VEXAS syndrome Grayson, Peter C. Patel, Bhavisha A. Young, Neal S. Blood Blood Spotlight VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a monogenic disease of adulthood caused by somatic mutations in UBA1 in hematopoietic progenitor cells. Patients develop inflammatory and hematologic symptoms. Myeloid-driven autoinflammation and progressive bone marrow failure lead to substantial morbidity and mortality. Effective medical treatments need to be identified. Reports in the current issue of Blood describe novel UBA1 genetic variants, treatment options, and insight into disease pathophysiology. VEXAS syndrome represents a prototype for a new class of diseases. American Society of Hematology 2021-07-01 /pmc/articles/PMC8462403/ /pubmed/33971000 http://dx.doi.org/10.1182/blood.2021011455 Text en © 2021 by The American Society of Hematology This article is made available via the PMC Open Access Subset for unrestricted reuse and analyses in any form or by any means with acknowledgment of the original source. These permissions are granted for the duration of the World Health Organization (WHO) declaration of COVID-19 as a global pandemic or until permissions are revoked in writing. Upon expiration of these permissions, PMC is granted a perpetual license to make this article available via PMC and Europe PMC, consistent with existing copyright protections.
spellingShingle Blood Spotlight
Grayson, Peter C.
Patel, Bhavisha A.
Young, Neal S.
VEXAS syndrome
title VEXAS syndrome
title_full VEXAS syndrome
title_fullStr VEXAS syndrome
title_full_unstemmed VEXAS syndrome
title_short VEXAS syndrome
title_sort vexas syndrome
topic Blood Spotlight
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8462403/
https://www.ncbi.nlm.nih.gov/pubmed/33971000
http://dx.doi.org/10.1182/blood.2021011455
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