Genetic Advances in Inborn Errors of Immunity

Genetic Advances in Inborn Errors of Immunity, published as Volume 117 of the serial Advances in Genetics, provides a comprehensive and up-to-date overview of the rapidly evolving genetic landscape underlying inborn errors of immunity (IEI). Bringing together authoritative contributions from leading experts, this volume examines how advances in genomics, molecular diagnostics, and functional immunology have transformed the understanding, classification, and clinical management of primary immunodeficiency disorders. The chapters span severe monogenic conditions to complex, polygenic phenotypes, highlighting both mechanistic insights and translational implications. Collectively, the volume serves as an essential reference for researchers and clinicians seeking to understand how genetic discoveries are reshaping immunology and precision medicine.

• Presents state-of-the-art genetic insights across a broad spectrum of inborn errors of immunity, from severe combined immunodeficiency to complement disorders
• Highlights the impact of next-generation sequencing and functional genomics on disease discovery, diagnosis, and reclassification
• Explores genotype-phenotype correlations and their implications for immune dysregulation, autoimmunity, and infection susceptibility
• Includes expert analyses of both classical monogenic disorders and genetically complex conditions such as common variable immunodeficiency
• Emphasises translational relevance, linking genetic discoveries to clinical diagnosis, prognosis, and emerging therapeutic strategies