Primary Immunodeficiency Diseases

Definition, Diagnosis, and Management

  • Nima Rezaei
  • Asghar Aghamohammadi
  • Luigi D. Notarangelo

Table of contents

  1. Front Matter
    Pages i-xvii
  2. Nima Rezaei, Francisco A. Bonilla, Mikko Seppänen, Esther de Vries, Ahmed Aziz Bousfiha, Jennifer Puck et al.
    Pages 1-81
  3. Françoise Le Deist, Despina Moshous, Anna Villa, Waleed Al-Herz, Chaim M. Roifman, Alain Fischer et al.
    Pages 83-182
  4. Asghar Aghamohammadi, Alessandro Plebani, Vassilios Lougaris, Anne Durandy, Antonio Condino-Neto, Hirokazu Kanegane et al.
    Pages 183-244
  5. Uwe Wintergerst, Taco W. Kuijpers, Sergio D. Rosenzweig, Steven M. Holland, Mario Abinun, Harry L. Malech et al.
    Pages 245-294
  6. Carsten Speckmann, Arndt Borkhardt, Bobby Gaspar, Eleonora Gambineri, Stephan Ehl
    Pages 295-338
  7. Nima Parvaneh, Desa Lilic, Joachim Roesler, Tim Niehues, Jean-Laurent Casanova, Capucine Picard
    Pages 339-392
  8. Stefan Berg, Per Wekell, Anders Fasth, Philip N. Hawkins, Helen Lachmann
    Pages 393-435
  9. Maryam Mahmoudi, Per H. Nilsson, Tom Eirik Mollnes, Dirk Roos, Kathleen E. Sullivan
    Pages 437-460
  10. Andrew R. Gennery, Laszlo Marodi, John B. Ziegler, Teresa Español, Bodo Grimbacher
    Pages 461-517
  11. Jeffrey E. Ming, E. Richard Stiehm
    Pages 519-551
  12. Back Matter
    Pages 553-582

About this book


Primary immunodeficiency diseases (PIDs) are a group of inborn disorders of the immune system, characterized by increased susceptibility to infections, autoimmunity, and cancers. Although PIDs were previously considered rare conditions, the number of diagnosed cases is growing rapidly, and about 300 different forms of PIDs have already been recognized. Nevertheless, because of inadequate medical awareness, misdiagnosis or late diagnosis occurs in a significant number of patients, leading to avoidable morbidity and mortality.

The first edition of this practical reference textbook was widely welcomed by scientists and clinicians from around the world. This new edition has been extensively revised to reflect advances in knowledge and includes various PIDs not previously covered. For each disease, information is provided on definition, etiology, clinical manifestations, diagnosis, and management. Every effort has been made to ensure that, throughout, the text is easy to read and readily comprehensible. The book will represent an ideal resource for specialists when engaging in diagnosis, clinical decision-making, and treatment planning. It will also prove invaluable for doctors in training and other physicians and nurses who wish to learn more about PIDs.


Autoimmunity Genetic Defects Immunology Infectious Complications Treatment Autoinflammatory Disorders B-cell immunodeficiency Combined Immunodeficiencies T-Cell Immunodeficiency Agammaglobulinemia Antibody Deficiencies Phagocyte Defects Monocyte Deficiencies Dendritic Cell Deficiencies

Editors and affiliations

  • Nima Rezaei
    • 1
  • Asghar Aghamohammadi
    • 2
  • Luigi D. Notarangelo
    • 3
  1. 1.Research Center for ImmunodeficienciesChildren's Medical Center Tehran University of Medical SciencesTehranIran
  2. 2.Department of Immunology and Biology School of MedicineTehran University of Medical SciencesTehranIran
  3. 3.Division of ImmunologyBoston Children's Hospital Harvard Medical SchoolBostonUSA

Bibliographic information

  • DOI
  • Copyright Information Springer-Verlag Berlin Heidelberg 2017
  • Publisher Name Springer, Berlin, Heidelberg
  • eBook Packages Medicine Medicine (R0)
  • Print ISBN 978-3-662-52907-2
  • Online ISBN 978-3-662-52909-6
  • Buy this book on publisher's site