Publications by authors named "Megan Trick"
Somatic mutations in UBA1 involving hematopoietic stem and myeloid cells have been reported in patients with the newly defined VEXAS (vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic) syndrome. Here, we report clinical hematologic manifestations and unique bone marrow (BM) features in 16 patients with VEXAS. All patients were male and had a history of severe autoinflammatory and rheumatologic manifestations and a somatic UBA1 mutation (p.
View Article and Find Full Text PDFGATA2 is a transcription factor critical for hematopoiesis. Germline mutations in GATA binding protein 2 (GATA2) led to haploinsufficiency, severe cytopenias of multiple cell lineages, susceptibility to infections and strong propensity to develop myelodysplastic syndrome, and acute myeloid leukemia. Mechanisms of progressive cytopenias remain unclear.
View Article and Find Full Text PDFArticle Synopsis
- Adult-onset inflammatory syndromes can exhibit overlapping symptoms, and the study discovered that mutations in ubiquitin-related genes, particularly in UBA1, are linked to these disorders.
- Researchers utilized various methodologies, including exome sequencing and CRISPR technology, to identify mutations in patients with severe inflammatory conditions that typically develop in late adulthood.
- The findings indicate that these mutations lead to a significant change in immune response and could help define a new inflammatory disorder related to genetic abnormalities in UBA1.