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Other Well-Defined Immunodeficiency Syndromes

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Clinical Cases in Primary Immunodeficiency Diseases

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Abstract

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].

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Authors and Affiliations

  1. Department of Immunology and Immunodficiencies, School of Medicine, University Hospital Vall d’Hebron, Barcelona, Spain

    Teresa Espanol M.D., Ph.D.

  2. Department of Immunology, School of Medicine, Tehran University of Medical Sciences, Tehran, Iran

    Nima Rezaei M.D., Ph.D.

  3. Centre de Regulació Genòmica, PF, Parc de Recerca Biomèdica de Barcelona, Barcelona, Spain

    Cristina Fillat M.D.

  4. Centro de Investigación Biomédica en Red de Enfermedades Raras, Barcelona, Spain

    Cristina Fillat M.D.

  5. Division of Pediatric Allergy/Immunology, Marmara University, Istanbul, Turkey

    Isil B. Barlan M.D. & Elif Aydiner M.D.

  6. Pediatric Infectious Diseases and Immunodeficiencies Unit, Vall d’Hebron University Hospital, Barcelona, Spain

    Fabiola Caracseghi M.D. & Pere Soler-Palacín M.D., Ph.D.

  7. Centre de Regulació Genòmica, PF, Immunodeficiency and Pediatric Rheumatology Centre, HELIOS Clinic Krefeld, Academic Hospital University of the RWTH Aachen, Krefeld, Germany

    Tim Niehues M.D., Ph.D.

  8. Centre de Regulació Genòmica, PF, Research Center for Immunodeficiencies, Children’s Medical Center Hospital, Tehran, Iran

    Nima Rezaei M.D., Ph.D.

  9. Molecular Immunology Research Center, Tehran, Iran

    Nima Rezaei M.D., Ph.D.

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  1. Teresa Espanol M.D., Ph.D.
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  2. Cristina Fillat M.D.
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  3. Isil B. Barlan M.D.
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  4. Elif Aydiner M.D.
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  5. Fabiola Caracseghi M.D.
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  6. Tim Niehues M.D., Ph.D.
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  7. Pere Soler-Palacín M.D., Ph.D.
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  8. Nima Rezaei M.D., Ph.D.
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Corresponding author

Correspondence to Teresa Espanol M.D., Ph.D. .

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Editors and Affiliations

  1. Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Asghar Aghamohammadi

  2. Research Center for Immunodeficiencies, Children's Medical Center Hospital, Tehran University of Medical Sciences, Qarib St, Keshavarz Blvd, Tehran, 14194, Iran

    Nima Rezaei

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Espanol, T. et al. (2012). Other Well-Defined Immunodeficiency Syndromes. In: Aghamohammadi, A., Rezaei, N. (eds) Clinical Cases in Primary Immunodeficiency Diseases. Springer, Berlin, Heidelberg. https://doi.org/10.1007/978-3-642-31785-9_9

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