inborn error of immunity
The current preferred term for primary immunodeficiencies, emphasizing their genetic basis and diverse manifestations.
Full Definition
Inborn errors of immunity (IEI) is the contemporary terminology for what were previously called primary immunodeficiencies. This term better reflects the understanding that these conditions result from genetic defects affecting various aspects of immune function, including not only immunodeficiency but also immune dysregulation, autoinflammation, and malignancy predisposition. The classification emphasizes that these are monogenic disorders with diverse clinical presentations beyond increased susceptibility to infections. This terminology shift acknowledges the expanded phenotypic spectrum and improved genetic understanding of these conditions in pediatric patients.
Usage
Usage note: This is the preferred current terminology; avoid outdated terms like 'primary immunodeficiency' when possible.
In Context
- "The patient was diagnosed with an inborn error of immunity affecting both T-cell and B-cell function." — Genetic counseling report
- "Inborn errors of immunity encompass a broader spectrum than traditional immunodeficiency classifications." — Medical education material