Difetti congeniti dell’immunità: non solo le vecchie immunodeficienze

Abstract

Inborn errors of immunity are a rapidly-developing area of clinical study. Based on the description of a small set of disorders with a significant risk of infection that may be identified with a small number of lab tests, the definition has been expanded to include a broader range of diseases that may necessitate a more intricate diagnostic process involving immunological and genetic studies. In this context, the paper presents a compilation of the most prevalent and severe illnesses that should not be overlooked. Additionally, it provides valuable guidance for classifying recently identified conditions, which may manifest as more nuanced and gradual clinical presentations. Prompt identification is es- sential for timely implementation of elective treatments such as bone marrow transplantation or gene therapy in severe instances or for commencing targeted medications that can mitigate present and future hazards in other cases.