Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS

Autor: Mihai G. Netea, David B. Beck, A. Elizabeth Hak, Huub P.J. Willems, Pieter van Paassen, Caspar I van der Made, Marielle E. van Gijn, Frank L. van de Veerdonk, Arjan J. Kwakernaak, Lars T. van der Veken, Marloes W Heijstek, Annemiek Hoogstins, Alexander Hoischen, Ruud G. L. de Sévaux, Helen L. Leavis, Paul L A van Daele, Abraham Rutgers, Judith Potjewijd, Annet Simons

Publikováno v: Journal of Allergy and Clinical Immunology, 149, 1, pp. 432-439
Journal of Allergy and Clinical Immunology, 149, 432-439
Journal of Allergy and Clinical Immunology, 149(1), 432-439.e4. MOSBY-ELSEVIER
Journal of Allergy and Clinical Immunology, 149(1), 432-439.e4. Mosby Inc.

Background: A novel autoinflammatory syndrome was recently described in male patients who harbored somatic mutations in the X-chromosomal UBA1 gene. These patients were characterized by adult-onset, treatment-refractory inflammation with fever, cytop

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52e1545a39943a56b7d8eb1c62781215
https://repository.ubn.ru.nl/handle/2066/246773