Globally, 3 out of 5 persons lose their lives to chronic inflammatory conditions, such as diabetes, cardiovascular disorders, cancer, chronic respiratory diseases, skin diseases, renal diseases and obesity. Inflammatory diseases are the most prevailing cause of death worldwide and the numbers keep rising.
The network focuses on reducing the burden of infectious and inflammatory diseases caused by pathogens, damaged cells, toxic compounds or radiation in order to develop new diagnostic and treatment technologies.
As a society, we need more knowledge about the correlation between e.g. inflammation and development of cancer, about biomarkers and about molecular mechanisms of autoimmunity in e.g. rheumatological conditions - not to mention chronic mucosal inflammation. In the inflammation network we collaborate interdisciplinearily in order to find answers.
We comprise a wide range of researchers with interest in diagnostic methods, epidemiological data, inflammatory markers and intracellular pathways, understanding of cell population and tissue structures, among others.
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Paper of the Month
Anne Margrethe Troldborg
VEXAS is a newly described complex clinical syndrome caused by variations in the UBA1 gene. Patients experience macrocytic anemia, fever, elevated inflammatory markers and a plethora of different systemic rheumatic, dermatologic and pulmonary symptoms. Before the current publication, VEXAS has been described as a rare disease almost exclusively affecting men and very little was known about penetrance of the genetic variations causing VEXAS.
In this paper of the month, David Beck and colleagues, who originally described the VEXAS syndrome, examine prevalence and penetrance of the UBA1 variations by retrospectively investigating genetic data from 163.000 individuals in Pennsylvania, US.
Among the 163.000 individuals, who in the period 1996-2012 gave a blood sample for genetic research (protocolized research project), 11 people had one of the known VEXAS variants in the UBA1 gene. All 11 individuals had clinical disease (100%). In two cases, the mutation was present before the onset of the clinical symptoms. Two out of the 11 people were women with a heterozygous mutation. The estimated prevalence for people over 50 was 1/4269 for men and 1/26,238 for women.
The study offers the first real estimate of VEXAS prevalence, which is significantly higher than first assumed. In addition, the study answers the question of penetrance, as all carriers of a described VEXAS mutation had or developed clinical disease (100% penetrance). The finding of detectable variants before clinical disease and the higher female representation among VEXAS are new aspects that need confirmation in other large cohorts.
Beck DB, Bodian DL, Shah V, et al.: Estimated Prevalence and Clinical Manifestations of UBA1 Variants Associated With VEXAS Syndrome in a Clinical Population - JAMA 2023;329:318-324.
