Syndromic Immunodeficiencies

  • Jeffrey E. Ming
  • E. Richard Stiehm
  • In syndromic immunodeficiencies, clinical features not directly associated with the immune defect are prominent.

  • Patients may present with either infectious complications or with extra-immune medical issues.

  • In addition to the immunologic abnormality, a wide range of organ systems may be affected. A number of different conditions feature symptoms related to the skeletal, neurologic, dermatologic, or gastrointestinal systems.

  • Many of these conditions are associated with single gene defects, although they may also be caused by developmental abnormalities, chromosomal aberrations, or teratogens.

  • The finding of immune deficits in a patient with extra-immune organ system involvement should prompt investigations to determine if an underlying genetic syndrome is present.


Purine Nucleoside Phosphorylase Primary Immunodeficiency Disease Nijmegen Breakage Syndrome Dyskeratosis Congenita Leukocyte Adhesion Deficiency 
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

  • Jeffrey E. Ming
    • 1
  • E. Richard Stiehm
    • 2
  1. 1.Department of Pediatrics Division of Human Genetics and Molecular Biology The Children’s Hospital of PhiladelphiaThe University of Pennsylvania School of MedicinePhiladelphiaUSA
  2. 2.UCLA School of Medicine Division of Immunology, Allergy and Rheumatology Department of PediatricsMattel Children’s Hospital at UCLALos AngelesUSA

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