IgA deficiency: what is new?

Curr Opin Allergy Clin Immunol. 2012 Dec;12(6):602-8. doi: 10.1097/ACI.0b013e3283594219.


Purpose of review: To summarize recent publications on clinical and genetic aspects of IgA deficiency (IgAD).

Recent findings: Both major histocompatibility complex (MHC) and non-MHC genes contribute to susceptibility to the disease. The former genes appear to be located in different parts of the MHC region depending on the HLA haplotype. The latter show a marked overlap with genes associated with a variety of autoimmune disorders including Graves' disease, systemic lupus erythematosus, type 1 diabetes and celiac disease, suggesting common pathophysiological mechanisms. Various cytokines, recently shown to include interleukin 21, can induce IgA synthesis in vitro in cells from patients with IgAD, suggesting a regulatory basis of the disease.

Summary: IgAD is the most common primary immunodeficiency in the Western world with a prevalence of approximately 1 : 600 in the general population. It appears to be a polygenic disorder and several of the genes involved have recently been identified. The involvement of genes associated with autoimmunity may suggest that IgAD in itself is an autoimmune disease.

Publication types

  • Review

MeSH terms

  • Autoimmune Diseases / genetics
  • Autoimmune Diseases / immunology*
  • Cytokines / therapeutic use
  • Genetic Predisposition to Disease
  • Haplotypes
  • Humans
  • IgA Deficiency / genetics
  • IgA Deficiency / immunology*
  • IgA Deficiency / therapy*
  • Major Histocompatibility Complex / genetics
  • Major Histocompatibility Complex / immunology


  • Cytokines