2025 Volume 62 Issue 3 Pages 222-229
Inborn errors of immunity (IEIs) encompass a spectrum of inherited immune system disorders, including increased susceptibility to infections, autoimmune and autoinflammatory diseases, malignancies, and allergies. IEIs include > 550 diseases, most of which have specific monogenic causes. For proper management, new diagnostic and treatment strategies, including clinical sequencing, have been developed. Identifying the genetic background enables the development of disease-specific treatments targeting the affected pathway. Furthermore, expanded newborn screening programs have been initiated for severe combined immunodeficiency and B-cell deficiency. Previously, most patients with these diseases were diagnosed only after the onset of infectious complications. However, early diagnosis before infection can significantly improve patient outcomes and quality of life.
