Skip to main content
Elsevier

Genetic Advances in Inborn Errors of Immunity

  • 1st Edition, Volume 117 - January 1, 2027
  • Latest edition
  • Editors: Rebeca Pérez de Diego, Ainara Castellanos-Rubio
  • Language: English

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 evolv… Read more

Back to School

Start strong. Study with purpose.

Save up to 25% on trusted learning resources

Shop now

Description

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.

Key features

  • 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

Readership

Researchers and principal investigators in genetics, immunology, and molecular medicine; Clinical immunologists and clinical geneticists involved in primary immunodeficiency diagnosis and management; Advanced postgraduate students and postdoctoral researchers in biomedical and translational sciences; Healthcare professionals and scientists specialising in immune dysregulation and rare genetic diseases

Table of contents

1. Introduction to genetic advances in inborn errors of immunity

2. Advances in the genetics of combined immunodeficiency (SCID)

3. Advances in genetics of autoimmune lymphoproliferative syndrome (ALPS) and ALPS‑like disorders

4. Advances in the genetics of Mendelian susceptibility to mycobacterial diseases (MSMD)

5. Advances in the genetics of TCR inborn errors of immunity

6. Advances in genetics of DNA repair defects

7. Advances in the genetics of common variable immunodeficiency: beyond the monogenic era

8. Advances in genetics of complement system diseases

Product details

  • Edition: 1
  • Latest edition
  • Volume: 117
  • Published: January 1, 2027
  • Language: English

About the editors

RD

Rebeca Pérez de Diego

Dra Rebeca Pérez de Diego is the head of Laboratory of Immunogenetics of Human Diseases (LIGHD) at Hospital La Paz Institute for Health Research - IdiPAZ (www.lighd.org), the head of the Genomic Analysis Platform at IdiPAZ, and associated member of CIBER de Enfermedades Respiratorias (CIBERES, Spain). Her work focuses on the identification of new genetic etiologies of Inborn Errors of Immunity. She works in close collaboration since more than 14 years as a primary immunodeficiency reference research lab with international reference clinical PID groups.

She has published 106 scientific publications with more than 9500 citations (H-index 31). She has published several chapters in immunology books and she has participated in clinical practice guidelines.

Affiliations and expertise
Laboratory of Immunogenetics of Human Diseases, IdiPAZ Institute for Health Research, Hospital La Paz, Madrid, Spain

AC

Ainara Castellanos-Rubio

Ainara Castellanos-Rubio obtained her PhD on Genetics from the University of the Basque Country (Spain) in 2010. During her PhD, she studied gene expression alterations and genetic polymorphisms associated to Celiac Disease. She did a short term research stay in the University of Tampere (Finland) under the supervision of Dr. Marku Makki and Dr. Katri Lindfors where she used three dimensional cell cultures to describe different pathways involved in Celiac Disease development. On 2011 she joined the Laboratory of Dr. Sankar Ghosh in Columbia University (NY, USA) where she carried out her postdoctoral studies. During her postdoctoral training, she studied the implication of long noncoding RNAs (lncRNAs) in the immune and inflammatory response and she discovered and functionally characterized a novel lncRNA involved in the susceptibility to Celiac Disease. Dr. Castellanos-Rubio is an Ikerbasque Associate in the University of the Basque Country, where she leads her own group. She is interested in the involvement of noncoding RNAs in the pathogenesis of autoimmune and inflammatory diseases and studies the influence of disease associated SNPs in the functional disturbance of these RNAs. More recently, she has become interested on the epitranscriptomic alterations involved in different aspects of RNA regulation and her group studies how SNPs and environmental factors can alter these epitranscriptomic signals influencing the inflammatory response that finally evolves in disease development.
Affiliations and expertise
University of the Basque Country and Ikerbasque, Basque Foundation for Science, Leioa, Spain