Mevalonate kinase deficiency (MKD), a rare auto-inflammatory disorder, arises from
mutations in the MVK gene, disrupting isoprenoid biosynthesis, and affecting cellular …

In B cells, IgD is expressed together with IgM through alternative splicing of primary VH DJ
HC μ-sm-Cδ-sm RNAs, and also through IgD class switch DNA recombination (CSR) via …

Objectives To detail the main otorhinolaryngological manifestations of autoinflammatory
diseases, aiming to contribute to early diagnosis and treatment. Data sources Searches …

Hidradenitis Suppurativa (HS) is a chronic suppurative disease of the pilosebaceous unit.
The current model of HS pathophysiology describes the condition as the product of …

Background: Systemic autoinflammatory diseases (SAID) are rare inherited disorders
involving genes regulating innate immune signaling and are characterized by periodic or …

Mevalonate kinase deficiency (MKD) is characterized by recurrent fevers and flares of
systemic inflammation, caused by biallelic loss-of-function mutations in MVK. The underlying …

Human migration and community specific cultural practices have contributed to founder
events and enrichment of the variants associated with genetic diseases. While many founder …

Rare monogenic autoinflammatory diseases are a group of recurrent inflammatory genetic
disorders caused due to genetic variants in over 37 genes. While a number of these …

Introducción la cavidad oral es parte del examen físico dermatológico. Los dermatólogos
con frecuencia abordamos casos de úlceras orales recurrentes, las cuales son un reto …

Abstract “Autoinflammatory syndromes” is the broad name given to a group of heritable
conditions caused by defects in genes that regulate the innate immune system. Initially …