Introduction on Inborn Errors of Immunity Publisher



Rezaei N ; Seppanen M ; De Vries E ; Bousfiha AA ; Orange J ; Puck J
Source: Inborn Errors of Immunity: Definition, Diagnosis, and Management Published:2025

Abstract

Inborn Errors of Immunity (IEIs), also known as Primary immunodeficiency diseases (PIDs), are a heterogeneous group of disorders with defects in one or more components of the immune system. Patients with IEI suffer from a variety of clinical manifestations, including recurrent, severe or unusual infections as well as autoimmunity, autoinflammation, atopy, bone marrow failure, lymphoproliferation, and malignancies. Inborn errors of immunity constitute a large group of diseases, affecting the development of the immune system, its function, or both. Although the number of patients diagnosed with IEIs is growing, health care workers still know little about these disorders. Many patients are diagnosed late; many cases suffer from complications due to chronic infections, irretrievable end-organ damage, or even death before the definitive diagnosis is made. Timely diagnosis and appropriate treatment remain the keys to the successful management of patients with IEIs. Population based newborn screening facilitates diagnosis of severe combined immunodeficiency and related disorders, permitting early, optimal treatment. The number of known IEIs has been increased considerably over the last two decades, while more than 550 different types have already been explained. The Algorithm Diagram 1.1 shows the decision tree orienting through new IEI classification categories. © The Editor(s) (if applicable) and The Author(s), under exclusive license to Springer Nature Switzerland AG 2025.