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Modern management of primary T-cell immunodeficiencies

Authors

  • Jana Pachlopnik Schmid,

    Corresponding author
    1. Division of Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Switzerland
    • Correspondence

      Jana Pachlopnik Schmid, Division of Immunology and BMT, University Children's Hospital Zurich, Steinwiesstrasse 75,

      CH-8032 Zurich, Switzerland.

      Tel.: +41 44 266 7311

      Fax: +41 44 266 7914

      E-mail: jana.pachlopnik@kispi.uzh.ch

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  • Tayfun Güngör,

    1. Division of BMT, University Children's Hospital Zürich, Switzerland
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  • Reinhard Seger

    1. Division of Immunology, Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies, Switzerland
    2. Division of BMT, University Children's Hospital Zürich, Switzerland
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Abstract

The study of human T-cell PIDs with Mendelian inheritance has enabled the molecular characterization of important key functions and pathways in T-cell biology. In most cases, T-cell PIDs become apparent as combined T- and B-cell deficiencies. Severe combined immunodeficiencies (SCIDs) are characterized by a complete lack of T-cell development and, in some cases, a developmental block in other lymphoid lineages and manifest within the first year of life. Combined immunodeficiency syndromes (CIDs) result from hypomorphic mutations in typical SCID associated genes or from partial defects of T-cell development and manifest later in childhood by increased susceptibility to infection often combined with disturbances in immune homeostasis, e.g., autoimmunity and increased incidence in lymphoproliferation. The discovery of mutations and characterization of the cellular changes that underlie lymphocyte defects and immune dysregulation have led to novel, specific, successful therapies for severe diseases which are often fatal if left untreated. Over the last few years, impressive progress has been made in understanding the disease mechanisms of T-cell immunodeficiencies and in improving the long-term outcomes of potentially curative treatments, including gene therapy.

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