Rheumatological manifestations in inborn errors of immunity.

Rheumatological manifestations in inborn errors of immunity. Pediatr Res. 2019 Oct 03;: Authors: Bal SK, Pazmandi J, Boztug K, Özen S Abstract Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by nature are considered complex diseases with partially genetic origin, as exemplified by their heterogeneous phenotypic and genetic presentation. Recent advances in genetic technologies have helped uncover multiple variants associated with disease susceptibility; however, the genotype-phenotype link is still missing. Inborn errors of immunity (IEI) in addition to recurrent infections also present with autoimmune and autoinflammatory rheumatologic manifestations 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 IEI with overlapping and differentiating features in immunodeficiencies and rheumatologic disorders. PMID: 31581173 [PubMed - as supplied by publisher]
Source: Pediatric Research - Category: Pediatrics Authors: Tags: Pediatr Res Source Type: research