Acta Med Acad. 2025 Aug 12. doi: 10.5644/ama2006-124.478. Online ahead of print.
ABSTRACT
Immunoglobulin A (IgA) vasculitis (IgAV) is the most prevalent systemic vasculitis in children. Although the condition is typically self-limiting with spontaneous recovery within a few weeks, both acute and long-term complications can arise, with renal involvement being the most significant. In recent years, considerable attention has been directed toward unraveling the genetic basis of IgAV. Studies have identified associations between disease susceptibility and specific human leukocyte antigen (HLA) polymorphisms. In addition, variants in genes encoding cytokines, chemokines, and other biologically important proteins – particularly those involved in the abnormal glycosylation of IgA1 – have been linked to both increased risk of developing IgAV and more severe disease manifestations. Notably, polymorphisms in the interleukin-1 receptor antagonist (IL1RN) and IL8 genes have been correlated with an increased risk of glomerular injury. Other gene polymorphisms have also been associated with specific clinical phenotypes, such as HMGB1 and RAGE, whereas polymorphisms in genes involved in mucosal immune defense have not demonstrated any significant correlations to date. Ongoing research is essential to clarify these findings further and determine their implications for clinical practice.
PMID:41268739 | DOI:10.5644/ama2006-124.478
