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. 2022 Nov;74(11):1733-1736.
doi: 10.1002/art.42258. Epub 2022 Sep 15.

VEXAS Syndrome and Disease Taxonomy in Rheumatology

Peter C Grayson  1 , David B Beck  2 , Marcela A Ferrada  1 , Peter A Nigrovic  3 , Daniel L Kastner  4
Affiliations

VEXAS Syndrome and Disease Taxonomy in Rheumatology

Peter C Grayson et al. Arthritis Rheumatol. 2022 Nov.
No abstract available

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Figures

Figure:
Figure:. Distinct roles of genotype in disease taxonomy.
Identification of a disease-causing pathogenic variant enables two improvements in the taxonomy of disease. First, it permits discovery of genetically-defined biological subsets within specific clinical syndromes, depicted here as blue “branches” within disease phenotypes represented by plants of different shapes, some of which always reflect the variant but others which can arise from other causes as well (genetics for classification). Second, its permits identification of the full clinical spectrum of a disease, exemplified here by four outwardly dissimilar phenotypes that can share a common origin (genetics for diagnosis). VEXAS exemplifies this principle, accounting for 8% of relapsing polychondritis but also cases of giant cell arteritis, polyarteritis nodosa, Sweet’s syndrome, and myelodysplasia.
See this image and copyright information in PMC

References

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