Inborn Errors of Immunity

Asghar Aghamohammadi was a Professor in Pediatrics and Clinical Immunology, at the Tehran University of Medical Sciences (TUMS) in Iran. He directed the Research Center for Immunodeficiencies (RCID), the pre-eminent centre in Iran for primary immunodeficiency. He completed a fellowship in Great Ormond Street Hospital, UK and earned a PhD from the University of Toyama, Japan. His work focused on primary immunodeficiency, including primary antibody deficiency disorders, molecular diagnosis, and patient treatment and management. His work has been widely published and referred to in his field. Hassan Abolhassani is a leading member of the Junior Faculty at the Karolinska Institute (KI) and a team leader at Division of Clinical Immunology in the Department of Laboratory Medicine, KI in Sweden. He received his MD and his first PhD in Immunogenetics from TUMS and his second PhD in Clinical Immunology from the KI. His work focuses on the gene discovery and pathogenesis of primary antibody deficiency and the immune pathways involved, to help physicians and immunologists understand immune-related genes with unknown functions. He has received numerous academic awards and is widely published in the field. Professor Nima Rezaei gained his medical degree (MD) from Tehran University of Medical Sciences and subsequently obtained an MSc in Molecular and Genetic Medicine and a PhD in Clinical Immunology and Human Genetics from the University of Sheffield, UK. He also spent a short-term fellowship of Pediatric Clinical Immunology and Bone Marrow Transplantation in the Newcastle General Hospital. Professor Rezaei is now the Full Professor of Immunology and Vice Dean of Research, School of Medicine, Tehran University of Medical Sciences, and the co-founder and Head of the Research Center for Immunodeficiencies. He is also the founding President of the Universal Scientific Education and Research Network (USERN). Professor Rezaei has already been the Director of more than 55 research projects and has designed and participated in several international collaborative projects. Professor Rezaei is an editorial assistant or board member for more than 30 international journals. He has edited more than 35 international books, has presented more than 500 lectures/posters in congresses/meetings, and has published more than 1,000 scientific papers in the international journals. Reza Yazdani, PhD, is an Assistant Professor and Vice President of the Research Center for Immunodeficiencies (RCID) at Tehran University of Medical Sciences, the leading institution for the study of inborn errors of immunity (IEI) in Iran. He earned his PhD in Medical Immunology from Isfahan University of Medical Sciences, Iran, and completed a postdoctoral fellowship at Thomas Jefferson University, USA. His research focuses on the pathogenesis and diagnosis of IEIs, with particular expertise in the application of flow cytometry. He has received numerous awards and honors and has published over 160 scientific papers in international journals. He is honored as the top 1% of highly cited scientific researchers in the field of Immunology, Essential Science Indicators (ESI, Web of Science). He was selected as the Best Young Researcher in Medical Sciences at the Avicenna Festival 2025. He also serves on the editorial boards of several international journals.

• 1. Introduction2. Immunodeficiencies affecting cellular and humoral immunity3. Combined immunodeficiencies with associated or syndromic features4. Predominantly Antibody Deficiencies (PADs)5. Diseases of immune dysregulation6. Phagocyte defects7. Defects in Intrinsic and Innate immunity8. Auto-inflammatory disorders9. Complement deficiencies10. Phenocopies of PID11. Treatment and Management

"This book provides a broad, comprehensive overview of primary immunodeficiencies (PIDs) and is a useful resource for clinical immunologists and other medical providers. The book is divided into 10 sections with the first 9 sections dedicated to the main classifications of PIDs—combined immunodeficiencies, combined immunodeficiencies with syndromic features, predominantly antibody deficiencies, diseases of immune dysregulation, congenital defects of phagocytes, defects of intrinsic and innate immunity, autoinflammatory diseases, complement deficiencies, and phenocopies of inborn errors of immunity. The last chapters provide a guideline of management and general treatment of patients with PIDs. The layout of this book is such that it is relatively quick and easy to find applicable information of interest. The algorithms and figure+C7s+C6 help aid in the stepwise approach to diagnosis and management of primary immunodeficiencies in a meaningful and cost-effective way. It also includes dedicated sections for clinical features and immunologic tests with well curated figures of PID manifestations, color depictions, imaging, and histologic illustrations. Although the book provides less information on the treatment and management of PIDs, the general guidelines nicely summarize conventional as well as specific treatments and follow-up recommendations. In conclusion, this book successfully simplifies an ever-growing, heterogeneous group of diseases in a way that makes it a useful resource for medical providers. Using this book and the clinical guidelines therein, the reader should be able to identify patients with PID based on their presenting signs and symptoms." --The Annals of Allergy, Asthma and Immunology"This is definitely a very useful book for the intended audiences. It is easier to read and more engaging than other heavy, detail-oriented books in this area, such as Primary Immunodeficiency Diseases: A Molecular and Genetic Approach, 3rd edition, Ochs et al. (Oxford University Press, 2014), or Primary Immunodeficiency Diseases: Definition, Diagnosis, and Management, 2nd edition, by Rezaei et al. (Springer, 2017), which focus more on the molecular/genetic details and the pathophysiology of the diseases." --© Doody’s Review Service, 2021, Pavadee Poowuttikul, MD(Children's Hospital of Michigan), reviewer, expert opinion"This book is a fittingly titled, well-written publication. As a lengthy read, Stiehm's utility proves more to be as a comprehensive and informative reference book and guide for clinicians and any other readers interested in immunodeficiency. Readers will be able to easily navigate this well-organized text that provides outstanding details pertaining to immunodeficiencies and their common presentations, diagnostic approaches, and laboratory evaluations for diseases and a focused discussion on immunodeficiency management. Each chapter guides the reader by setting the tone with an overview or introduction, priming the reader for the in-depth text. Furthermore, the reader will find in-color illustrations, pictures, and imaging, which provides a visual aid in helping to solidify the understanding for the rare and complicated conditions discussed. In addition, of great value are the authors' use of tables that serve as an excellent quick reference for a plethora of topics ranging from various syndromes and their associated gene defects to therapeutic uses of vaccines in patients with immunodeficiency." --Annals of Allergy, Asthma and Immunology