Article
Adult-onset autoinflammation caused by somatic mutations in UBA1: A Dutch case series of patients with VEXAS.
The Journal of allergy and clinical immunology - 1 Jan 2022
van der Made Caspar I, Potjewijd Judith, Hoogstins Annemiek, Willems Huub P J, Kwakernaak Arjan J, de Sevaux Ruud G L, van Daele Paul L A, Simons Annet, Heijstek Marloes, Beck David B, Netea Mihai G, van Paassen Pieter, Elizabeth Hak A, van der Veken Lars T, van Gijn Marielle E, Hoischen Alexander, van de Veerdonk Frank L, Leavis Helen L, Rutgers Abraham
Abstract excerpt
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, cytopenia, dysplastic bone marrow, vacuoles in myeloid and erythroid progenitor cells, cutaneous and pulmonary inflammation, chondritis, and vasculitis, which is...
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