Article

Single-cell genotype-phenotype mapping identifies therapeutic vulnerabilities in VEXAS syndrome

2024-05-20

Abstract excerpt

Somatic evolution leads to the emergence of clonal diversity across tissues with broad implications for human health. A striking example of somatic evolution is the VEXAS (Vacuoles E1 enzyme X-linked Autoinflammatory Somatic) syndrome, caused by somatic UBA1 mutations in hematopoietic stem cells (HSCs), inducing treatment-refractory, systemic inflammation. However, the mechanisms that lead to survival and expansi...

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Literature Corpus work: e3d68878-1564-52e5-9b5c-e58c952b613f
DOI: 10.1101/2024.05.19.594376

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