What is the role of genetics in the pathophysiology of Henoch-Schönlein purpura (IgA vasculitis)?

Updated: Jan 08, 2021
  • Author: Rajendra Bhimma, MBChB, MD, PhD, DCH (SA), FCP(Paeds)(SA), MMed(Natal); Chief Editor: Craig B Langman, MD  more...
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Although several lines of evidence suggest a genetic susceptibility to IgAV, the fundamental basis for this abnormality remains unclear. A functional correlation of the IL1RN-2 allele and IL-1ra production in patients with IgA nephropathy and IgAV nephritis has been described. Therefore, gene polymorphism may contribute to the diversity of clinical responses to inflammatory stimulation. The prevalence of the human parvovirus B19 component NS1 gene in patients with IgAV and hypersensitivity vasculitis is increased.

Gershoni-Baruch et al showed that in the Israeli population, 10% of patients with IgAV were homozygous for mutations in MEFV (the gene defective in familial Mediterranean fever that encodes the protein pyrin/marenostrin, which regulates caspase-1 activation and IL-1b production).  An additional 17% of patients with IgAV had heterozygous defects of this gene. [28]  Peru et al reported an increased risk of IgAV in children carrying HLA A2, A11, and B35 antigens and a reduced risk in those carrying HLA A1, B49, and B50 antigens. [29]

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