Rheumatological manifestations in inborn errors of immunity.

Abstract

Rare monogenetic diseases serve as natural models to dissect the molecular pathophysiology of the complex disease traits. Rheumatologic disorders by theirnature are considered complex diseases with partially genetic origin, as illustratedby their heterogeneous genetic background and variablephenotypic presentation. Recent advances in genetic technologies have helped uncover multiple variants associated with disease susceptibility; however, a precise understanding ofgenotype-phenotype relationshipsis still missing. Inborn errors of immunity (IEIs), in addition to recurrent infections, mayalso present with autoimmune and autoinflammatory rheumatologic manifestations andhave 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.