Introduction Autoinflammatory diseases (AID) are usually diagnosed during the pediatric
age. However, adult-onset disease or diagnosis during adulthood has been occasionally …

Vacuoles, E1 enzyme, X-linked, autoinflammatory, somatic syndrome (VEXAS syndrome) is
a recently described genetic disorder that gathers autoinflammatory symptoms and myeloid …

Objective Pyrin-Associated Autoinflammation with Neutrophilic Dermatosis (PAAND) is a
recently described monogenic autoinflammatory disease. The causal p.S242R MEFV mutation …

… Aróstegui 3 Anna Mensa-Vilaro Anna Mensa-Vilaro 3 Ebun Omoyinmi Ebun Omoyinmi 2
Hadija Trojer Hadija Trojer 1 Anna Baginska Anna Baginska 1 Alberto Baroja-Mazo Alberto …

To date, the pathogenic mechanisms underlying Schnitzler syndrome remain obscure, in
particular, the interplay between the monoclonal protein and increased interleukin-1β (IL-1β) …

Objective Gain‐of‐function NLRP3 mutations cause cryopyrin‐associated periodic syndrome
(CAPS), with gene mosaicism playing a relevant role in the pathogenesis. This study was …

Background Postzygotic de novo mutations lead to the phenomenon of gene mosaicism. The
3 main types are called somatic, gonadal, and gonosomal mosaicism, which differ in terms …

Background Monogenic autoinflammatory diseases are caused by pathogenic variants in
genes that regulate innate immune responses, and are characterized by sterile systemic …

Objective To investigate the molecular cause of persistent fevers in a patient returning from
working overseas, in whom investigations for tropical diseases yielded negative results. …

9. Ilmarinen-Salo P, Moilanen E, Kinnula VL, Kankaanranta H. Nitric oxide-induced eosinophil
apoptosis is dependent on mitochondrial permeability transition (mPT), JNK and oxidative …