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Article

Case Report: Genetic Double Strike: VEXAS and TET2-Positive Myelodysplastic Syndrome in a Patient With Long-Standing Refractory Autoinflammatory Disease.

Frontiers in immunology - 1 Jan 2021

Lötscher Fabian, Seitz Luca, Simeunovic Helena, Sarbu Adela-Cristina, Porret Naomi A, Feldmeyer Laurence, Borradori Luca, Bonadies Nicolas, Maurer Britta

Abstract excerpt

Somatic genetic mutations involving the innate and inflammasome signaling are key drivers of the pathogenesis of myelodysplastic syndromes (MDS). Herein, we present a patient, who suffered from a long-standing refractory adult-onset autoinflammatory syndrome (AIS), previously interpreted as various distinct rheumatic disorders. Developing pancytopenia and particularly macrocytic anemia prompted the screening for...

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Identifiers

PMID: 35126364
DOI: 10.3389/fimmu.2021.800149
PMCID: PMC8811255

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