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[Genetic mosaicism in Systemic Auto-Inflammatory Diseases: A review of the literature].
Rev Med Interne
November 2024
Service de médecine interne, hôpital Tenon, Assistance publique-Hôpitaux de Paris, Sorbonne université, 4, rue de la Chine, 75020 Paris, France; Centre de référence des maladies auto-inflammatoires rares et de l'amylose inflammatoire (CEREMAIA), hôpital Tenon, Assistance publique-Hôpitaux de Paris, 4, rue de la Chine, 75020 Paris, France.
Systemic auto-inflammatory diseases (SAIDs) are disorders associated with deregulation of innate immunity in which patients present classically with systemic inflammatory manifestations, in particular fever, skin-mucosal rashes, arthromyalgia and abdominal pain, with an increase in blood biomarkers of inflammation. At the time of their discovery, these diseases were associated with constitutional mutations in genes encoding proteins involved in innate immunity, and it was then considered that they had to begin in childhood. This dogma of constitutional mutations in SAIDs is no longer so unquestionable, since 2005 several cases of mosaicism have been reported in the literature, initially in cryopyrinopathies, but also in other SAIDs in patients with obvious clinical phenotypes and late onset of disease expression, in particular in the VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic Syndrome) and very recently in MEVF gene.
View Article and Find Full Text PDF[Clinical and genetic features of MDS associated with VEXAS syndrome].
Rinsho Ketsueki
April 2024
Department of Stem Cell and Immune Regulation, Yokohama City University Graduate School of Medicine.
VEXAS syndrome is a new disease entity characterized by the presence of cytoplasmic vacuoles in blood cells, X-linked autoinflammatory symptoms, and somatic variants in UBA1, which encodes an E1 ubiquitin-activating enzyme. Around 30-50% of VEXAS syndrome patients have concurrent MDS. We and others have recently analyzed clinical and genetic features of MDS associated with VEXAS syndrome and found that most of these cases are categorized in the low-risk subgroup with low bone marrow blast percentages.
View Article and Find Full Text PDFDescription of a novel splice site variant in UBA1 gene causing VEXAS syndrome.
Rheumatology (Oxford)
October 2024
Department of Immunology, Hospital Clínic, Barcelona, Spain.
Objective: Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a complex immune disorder consequence of somatic UBA1 variants. Most reported pathogenic UBA1 variants are missense or splice site mutations directly impairing the translational start site at p.Met41, with recent studies showing that these variants are frequent causes of recurrent inflammation in older individuals.
View Article and Find Full Text PDFDynamic monitoring of UBA1 somatic mutations in patients with relapsing polychondritis.
Orphanet J Rare Dis
January 2024
Department of Neurology, The First Affiliated Hospital of Zhengzhou University, Zhengzhou University, Zhengzhou, Henan, China.
Background: Commonly clinically diagnosed with relapsing polychondritis (RP), vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS) is a recently identified autoinflammatory disease caused by UBA1 somatic mutations. The low frequency and dynamic changes challenge the accurate detection of somatic mutations. The present study monitored these mutations in Chinese patients with RP.
View Article and Find Full Text PDFJAK inhibitors for the treatment of VEXAS syndrome.
Exp Biol Med (Maywood)
May 2023
Rheumatology Unit, Department of Medicine, University of Padova, 35128 Padova, Italy.
Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic (VEXAS) syndrome is a novel described autoinflammatory entity for which the diagnosis is defined by somatic mutations of the X-linked gene in hematopoietic progenitor cells. The clinical manifestations are heterogeneous since they range from autoinflammatory symptoms to the presence of underlying hematologic disorders such as myelodysplastic syndromes. Response to treatment in VEXAS is very poor and to date, the therapeutic strategies adopted are only partially effective.
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