Transcriptomics

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VEXAS syndrome, myelodysplasia cutis and sweet syndrome skin lesions share a common transcriptomic profile led by interferon signaling


ABSTRACT: VEXAS syndrome (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) is a recently described monogenic disease of adult men cause by somatic mutations in UBA1 in hematopoietic progenitor cells. It associates inflammatory-related symptoms, frequently involving the skin, and hematologic disorders. Myelodysplasia cutis, also recently described, is a cutaneous manifestation of myelodysplasia in which clonal myeloid cells infiltrate the skin. In both cases, skin lesions are due to the infiltration of clonal mutated myeloid cells and may clinically and histologically resemble sweet syndrome, a non-clonal neutrophilic skin disease. The aim of this study was to decipher the underlying mechanisms driving these three myeloid-related skin diseases using RNA-sequencing compared with healthy control skins and leukemia cutis, a neoplastic myeloid-related skin condition.

ORGANISM(S): Homo sapiens

PROVIDER: GSE245639 | GEO | 2025/04/01

REPOSITORIES: GEO

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