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

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 a hematological malignancy, which led to the diagnosis of a

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Copyright © 2022 Lötscher, Seitz, Simeunovic, Sarbu, Porret, Feldmeyer, Borradori, Bonadies and Maurer.

Déclaration de conflit d'intérêts

The authors declare no conflict of interest for the interpretation of the survey. Potentially perceived conflicts of interests according to the definitions and terms of International Committee of Medical Journal Editors are: NB: Alexion: research funding to institution; Amgen: financial support for travel; Astellas: research funding to institution; Celgene/BMS: financial support for travel, research funding to institution; consultancy honoraria; Janssen: financial support for travel; Novartis: financial support for travel, research funding to institution, consultancy honoraria; Roche: financial support for travel, research funding to institution; Sandoz: research funding to institution; Servier: research funding to institution; Takeda: research funding to institution. BM has consultancies with Novartis, Boehringer Ingelheim, Janssen-Cilag, had grant/research support from AbbVie, Protagen, Novartis Biomedical Research, received speaker fees from Boehringer-Ingelheim as well as congress support from Medtalk, Pfizer, Roche, Actelion, Mepha, and MSD. In addition, BM has a patent mir-29 for the treatment of systemic sclerosis issued (US8247389, EP2331143).