Recurrent or unusual infections in children – when to worry about inborn errors of immunity

Abstract

Recurrent infections are a common presenting feature in paediatrics and, while most times considered part of normal growing up, they are also a classical hallmark of inborn errors of immunity (IEI). We aimed to outline the value of currently used signs for IEI and the influence of the changing epidemiology of infectious diseases due to implementation of new vaccines and the effect of the COVID-19 pandemic on the assessment of children with recurrent infections. Warning signs for IEI have been developed, but the supporting evidence for their effectiveness is limited, and immune dysregulation is more commonly recognised as a feature for IEI, making reliable identification of children who should be screened for IEI on clinical grounds difficult. In addition, the epidemiology of infectious diseases is changing due to restrictions related to Covid-19 as well as immunisations, which may change the threshold to screen children for IEI. Treatments for IEI are evolving and are often more effective and less complicated when started early. Screening for IEI can be initiated by the non-immunologist and should be considered early to ensure optimal treatment outcomes.