I am a
Home I AM A Search Login

Papers of the Week

2022 03 01

Tidsskr Nor Laegeforen



A man in his sixties with chondritis and bone marrow failure.


Midtvedt Ø, Stray-Pedersen A, Andersson H, Gunnarsson R, Tveten K, Ali M M, Tjønnfjord GE
Tidsskr Nor Laegeforen. 2022 03 01; 142(4).
PMID: 35239266.


VEXAS syndrome (Vacuoles, E1 enzyme, X-linked, Autoinflammatory, Somatic syndrome) first described in 2020, is caused by a limited repertoire of somatic mutations in UBA1, a gene involved in the initiation of ubiquitination. Ubiquitination, adding an ubiquitin protein to a substrate protein, can have various effects on the substrate. Disruption of UBA1 function results in diverse clinical manifestations, mimicking a variety of disorders.