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In most cases, T\u2010cell <jats:styled-content style=\"fixed-case\">PID<\/jats:styled-content>s become apparent as combined T\u2010 and B\u2010cell deficiencies. Severe combined immunodeficiencies (<jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content>s) are characterized by a complete lack of T\u2010cell development and, in some cases, a developmental block in other lymphoid lineages and manifest within the first year of life. Combined immunodeficiency syndromes (<jats:styled-content style=\"fixed-case\">CID<\/jats:styled-content>s) result from hypomorphic mutations in typical <jats:styled-content style=\"fixed-case\">SCID<\/jats:styled-content> associated genes or from partial defects of T\u2010cell 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\u2010cell immunodeficiencies and in improving the long\u2010term outcomes of potentially curative treatments, including gene therapy.<\/jats:p>","DOI":"10.1111\/pai.12179","type":"journal-article","created":{"date-parts":[[2014,1,3]],"date-time":"2014-01-03T07:52:58Z","timestamp":1388735578000},"page":"300-313","source":"Crossref","is-referenced-by-count":16,"title":["Modern management of primary T\u2010cell immunodeficiencies"],"prefix":"10.1111","volume":"25","author":[{"given":"Jana","family":"Pachlopnik Schmid","sequence":"first","affiliation":[{"name":"Division of Immunology Jeffrey Modell Diagnostic and Research Center for Primary Immunodeficiencies  Switzerland"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Tayfun","family":"G\u00fcng\u00f6r","sequence":"additional","affiliation":[{"name":"Division of BMT University Children's Hospital Z\u00fcrich  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