Rheumatological manifestations in inborn errors of immunity

Pediatr Res. 2020 Jan;87(2):293-299. doi: 10.1038/s41390-019-0600-8. Epub 2019 Oct 3.


Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by their nature are considered complex diseases with partially genetic origin, as illustrated by their heterogeneous genetic background and variable phenotypic presentation. Recent advances in genetic technologies have helped uncover multiple variants associated with disease susceptibility; however, a precise understanding of genotype-phenotype relationships is still missing. Inborn errors of immunity (IEIs), in addition to recurrent infections, may also present with autoimmune and autoinflammatory rheumatologic manifestations and have provided insights for understanding the underlying the principles of immune system homeostasis and mechanisms of immune dysregulation. This review discusses the rheumatologic manifestations in IEIs with overlapping and differentiating features in immunodeficiencies and rheumatologic disorders.

Publication types

  • Review

MeSH terms

  • Animals
  • Autoimmunity* / genetics
  • Genetic Predisposition to Disease
  • Humans
  • Immune System / growth & development
  • Immune System / immunology*
  • Phenotype
  • Primary Immunodeficiency Diseases / complications
  • Primary Immunodeficiency Diseases / genetics
  • Primary Immunodeficiency Diseases / immunology*
  • Primary Immunodeficiency Diseases / physiopathology
  • Rheumatic Diseases / genetics
  • Rheumatic Diseases / immunology*
  • Rheumatic Diseases / physiopathology
  • Risk Assessment
  • Risk Factors