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Autor:
Maël Heiblig, Marcela A. Ferrada, Matthew T. Koster, Thomas Barba, Mathieu Gerfaud-Valentin, Arsène Mékinian, Henrique Coelho, Gaelle Fossard, Fiorenza Barraco, Lionel Galicier, Boris Bienvenu, Pierre Hirsch, Guillaume Vial, Anne Blandine Boutin, Joris Galland, Guillaume Le Guenno, Adrien Bigot, Kenneth J. Warrington, Tanaz A. Kermani, Peter C. Grayson, Bhavisha A. Patel, David B. Beck, Yvan Jamilloux, Pierre Fenaux, Pierre Sujobert
Publikováno v:
Blood. 140(8)
VEXAS syndrome (vacuoles in myeloid progenitors, E1 ubiquitin activating enzyme, X-linked, autoinflammatory manifestations and somatic) is an autoinflammatory condition caused by somatically acquired UBA1 mutations. Heiblig et al report on an interna