Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2022 Apr 1;107(4):1011-1013.
doi: 10.3324/haematol.2021.280238.

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)

Ryan J Stubbins  1 , Eric McGinnis  2 , Bhupinder Johal  3 , Luke Yc Chen  4 , Lorena Wilson  5 , Daniela Ospina Cardona  5 , Thomas J Nevill  6
Affiliations

VEXAS syndrome in a female patient with constitutional 45,X (Turner syndrome)

Ryan J Stubbins et al. Haematologica. .
No abstract available

PubMed Disclaimer

Figures

Figure 1.
Figure 1.
Representative diagnostic features of a female patient with constitutional 45,X and VEXAS syndrome (A) A diagnostic bone marrow aspirate was collected and stained with Giemsa-Wright. There is trilineage dysplasia, consistent with the known diagnosis of myelodysplastic syndrome with multilineage dysplasia. There is notable vacuolation of the erythroid and granulocytic precursors, indicated by the black arrows. (B) Karyotyping with G-banding demonstrated X monosomy, consistent with the patient’s reported history of constitutional 45,X (Turner syndrome). No clonal evolution was identified. A single X-chromosome is indicated by the black arrow. (C) Sanger sequencing for the UBA1 locus performed on peripheral blood demonstrated the presence of a somatic UBA1 p.Met41Thr mutation (c.122T>C) with approximately equal allele frequency as the reference allele, confirming the diagnosis of VEXAS syndrome; the Sanger chromatogram is demonstrated.
See this image and copyright information in PMC

Similar articles

See all similar articles

Cited by

See all "Cited by" articles

References

    1. Beck DB, Ferrada MA, Sikora KA, et al. . Somatic mutations in UBA1 and severe adult-onset autoinflammatory disease. N Engl J Med. 2020;383(27):2628-2638. - PMC - PubMed
    1. Lenk SE, Dunn WA, Trausch JS, Ciechanover A, Schwartz AL. Ubiquitin-activating enzyme, E1, is associated with maturation of autophagic vacuoles. J Cell Biol. 1992;118(2):301-308. - PMC - PubMed
    1. Obiorah IE, Patel BA, Groarke EM, et al. . Benign and malignant hematologic manifestations in patients with VEXAS syndrome due to somatic mutations in UBA1. Blood Adv. 2021;5(16):3203-3215. - PMC - PubMed
    1. Georgin-Lavialle S, Terrier B, Guedon AF, et al. . Further characterization of clinical and laboratory features occurring in VEXAS syndrome in a large-scale analysis of multicenter case-series of 116 French patients. Br J Dermatol., October 10, 2021, 10.1111/bjd.20805, [Epub ahead of print]. - DOI - PubMed
    1. van der Made CI, Potjewijd J, Hoogstins A, et al. . Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS. J Allergy Clin Immunol. 2022;149(1):432-439.e4. - PubMed

Publication types