Artificial Intelligence and Machine Learning for Inborn Errors of Immunity: Current State and Future Promise

Artificial intelligence (AI) and machine learning (ML) research within medicine has exponentially increased over the last decade, with studies showcasing the potential of AI/ML algorithms to improve clinical practice and outcomes. Ongoing research and efforts to develop AI-based models have expanded to aid in the identification of inborn errors of immunity (IEI). The use of larger electronic health record data sets, coupled with advances in phenotyping precision and enhancements in ML techniques, has the potential to significantly improve the early recognition of IEI, thereby increasing access to equitable care. In this review, we provide a comprehensive examination of AI/ML for IEI, covering the spectrum from data preprocessing for AI/ML analysis to current applications within immunology, and address the challenges associated with implementing clinical decision support systems to refine the diagnosis and management of IEI.