The recent identification of the genes involved in many primary immunodeficiency disorders has led to a significant increase in our understanding of the pathogenesis of these defects. Many of these disorders share a clinical phenotype with common features such as recurrent infections, chronic inflammation, and autoimmunity. Although some of these immune defects have mild presentations and better outcomes, others result in severe infections and significant morbidity and mortality. For these, early diagnosis and treatment are critical. This review provides an overview of the genetic defects and clinical features of primary immune deficiencies due to defects in lymphocytes.

Original languageEnglish
Pages (from-to)109-118
Number of pages10
JournalClinical Immunology
Issue number2
StatePublished - Nov 2003


  • Antibody deficiency
  • Primary immune deficiency
  • Severe combined immunodeficiency
  • T-cell activation defects


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