Other Well-Defined Immunodeficiency Syndromes

  • Teresa EspanolEmail author
  • Cristina Fillat
  • Isil B. Barlan
  • Elif Aydiner
  • Fabiola Caracseghi
  • Tim Niehues
  • Pere Soler-Palacín
  • Nima Rezaei


Five broad and major groups of PID classification have been known as CID, PAD, phagocyte disorders, complement deficiencies, as well as other well-defined immunodeficiency syndromes. The former includes Wiskott-Aldrich syndrome (WAS), which presents as a clinical triad of eczema, thrombocytopenia, and recurrent infections. Patients exhibit a variety of laboratory abnormalities, including decreases in peripheral blood CD8+ T cells. A flow cytometric assay for the detection of Wiskott-Aldrich syndrome protein (WASP) protein in lymphocytes has recently been described and applied to the diagnostic evaluation of both WAS patients and carriers of WASP mutations [1].


Ataxia Telangiectasia Ataxia Telangiectasia Primary Immunodeficiency Disease Nijmegen Breakage Syndrome Severe Atopic Dermatitis 
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Copyright information

© Springer-Verlag Berlin Heidelberg 2012

Authors and Affiliations

  • Teresa Espanol
    • 1
    Email author
  • Cristina Fillat
    • 3
    • 4
  • Isil B. Barlan
    • 5
  • Elif Aydiner
    • 5
  • Fabiola Caracseghi
    • 6
  • Tim Niehues
    • 7
  • Pere Soler-Palacín
    • 6
  • Nima Rezaei
    • 8
    • 9
    • 2
  1. 1.Department of Immunology and ImmunodficienciesSchool of Medicine, University Hospital Vall d’HebronBarcelonaSpain
  2. 2.Department of Immunology, School of MedicineTehran University of Medical SciencesTehranIran
  3. 3.Centre de Regulació Genòmica, PF, Parc de Recerca Biomèdica de BarcelonaBarcelonaSpain
  4. 4.Centro de Investigación Biomédica en Red de Enfermedades RarasBarcelonaSpain
  5. 5.Division of Pediatric Allergy/ImmunologyMarmara UniversityIstanbulTurkey
  6. 6.Pediatric Infectious Diseases and Immunodeficiencies UnitVall d’Hebron University HospitalBarcelonaSpain
  7. 7.Centre de Regulació Genòmica, PF, Immunodeficiency and Pediatric Rheumatology Centre, HELIOS Clinic Krefeld, Academic Hospital University of the RWTH AachenKrefeldGermany
  8. 8.Centre de Regulació Genòmica, PF, Research Center for Immunodeficiencies, Children’s Medical Center HospitalTehranIran
  9. 9.Molecular Immunology Research CenterTehranIran

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