An Introduction to Primary Immunodeficiency Diseases

  • Nima Rezaei
  • Francisco A. Bonilla
  • Kathleen E. Sullivan
  • Esther de Vries
  • Jordan S. Orange
  • Primary immunodeficiency diseases are a heterogeneous group of inherited disorders with defects in one or more components of the immune system.

  • Primary immunodeficiency diseases are not as rare as once believed.

  • Infections are the hallmark of immunodeficiency.

  • Delays in diagnosis can lead to irreparable organ system damage and thus immunodeficiency should be promptly considered.

  • Other symptoms may be more prominent at first, and this can be misleading.

  • Family history is of paramount importance.

  • Pattern recognition among clinical presentations is an efficient means of identifying primary immunodeficiency diseases within the large pool of patients with infections.

  • Abnormal patterns in host defense can only be identified by having a firm grasp of what is considered “normal”.

  • Severe defects should be considered and identified promptly using widely available screening tests such as the absolute peripheral blood lymphocyte count.


Allergy Clin Immunol Chronic Granulomatous Disease Primary Immunodeficiency Common Variable Immunodeficiency Primary Immunodeficiency Disease 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© Springer-Verlag Berlin Heidelberg 2008

Authors and Affiliations

  • Nima Rezaei
    • 1
    • 2
  • Francisco A. Bonilla
    • 3
  • Kathleen E. Sullivan
    • 4
  • Esther de Vries
    • 5
  • Jordan S. Orange
    • 4
  1. 1.Immunology, Asthma and Allergy Research Institute Children’s Medical Center HospitalTehran University of Medical SciencesTehranIran
  2. 2.Section of Infection, Inflammation and Immunity School of Medicine and Biomedical SciencesThe University of SheffieldSheffieldUK
  3. 3.Division of ImmunologyChildren’s Hospital BostonBostonUSA
  4. 4.Division of Allergy and Immunology The Children’s Hospital of PhiladelphiaUniversity of Pennsylvania School of MedicinePhiladelphiaUSA
  5. 5.Jeroen Bosch Hospital loc GZGThe Netherlands

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