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. 2022 Jul;42(5):947-951.
doi: 10.1007/s10875-022-01258-w. Epub 2022 Apr 2.

A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts

James Poulter  1 ; UKGCA/VEXAS Consortium; Ann Morgan  2   3 , Catherine Cargo  4 , Sinisa Savic  5   6
Collaborators, Affiliations

A High-Throughput Amplicon Screen for Somatic UBA1 Variants in Cytopenic and Giant Cell Arteritis Cohorts

James Poulter et al. J Clin Immunol. 2022 Jul.
No abstract available

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References

    1. Poulter JA, Savic S. Genetics of somatic auto-inflammatory disorders. Semin Hematol. 2021.
    1. Zhao LP, Schell B, Sebert M, Kim R, Lemaire P, Boy M, et al. Prevalence of UBA1 mutations in MDS/CMML patients with systemic inflammatory and auto-immune disease. Leukemia. 2021;35(9):2731–3. - DOI
    1. Carrel L, Clemson CM, Dunn JM, Miller AP, Hunt PA, Lawrence JB, et al. X inactivation analysis and DNA methylation studies of the ubiquitin activating enzyme E1 and PCTAIRE-1 genes in human and mouse. Hum Mol Genet. 1996;5(3):391–401. - DOI
    1. Shaukat F, Hart M, Burns T, Bansal P. UBA1 and DNMT3A mutations in VEXAS syndrome. a case report and literature review. Mod Rheumatol Case Rep. 2021.
    1. Rossignol J, Marzac C, Dellal A, Belfeki N, Jachiet V, Slaoui M, et al. UBA1 gene mutation in giant cell arteritis. Clin Rheumatol. 2022.

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