Autoimmunity in primary T-cell immunodeficiencies

Expert Rev Clin Immunol. 2016 Sep;12(9):989-1006. doi: 10.1080/1744666X.2016.1177458. Epub 2016 Apr 28.


Primary immunodeficiency diseases (PID) are a genetically heterogeneous group of more than 270 disorders that affect distinct components of both humoral and cellular arms of the immune system. Primary T cell immunodeficiencies affect subjects at the early age of life. In most cases, T-cell PIDs become apparent as combined T- and B-cell deficiencies. Patients with T-cell PID are prone to life-threatening infections. On the other hand, non-infectious complications such as lymphoproliferative diseases, cancers and autoimmunity seem to be associated with the primary T-cell immunodeficiencies. Autoimmune disorders of all kinds (organ specific or systemic ones) could be subjected to this class of PIDs; however, the most frequent autoimmune disorders are immune thrombocytopenic purpura (ITP) and autoimmune hemolytic anemia (AIHA). In this review, we discuss the proposed mechanisms of autoimmunity and review the literature reported on autoimmune disorder in each type of primary T-cell immunodeficiencies.

Keywords: Primary immunodeficiency; T cell; autoimmunity; regulatory T cell; tolerance.

Publication types

  • Review

MeSH terms

  • Anemia, Hemolytic, Autoimmune / epidemiology
  • Anemia, Hemolytic, Autoimmune / immunology*
  • Animals
  • Autoimmunity*
  • B-Lymphocytes / immunology*
  • Humans
  • Immune Tolerance
  • Immunologic Deficiency Syndromes / epidemiology
  • Immunologic Deficiency Syndromes / immunology*
  • Primary Immunodeficiency Diseases
  • Purpura, Thrombocytopenic, Idiopathic / epidemiology
  • Purpura, Thrombocytopenic, Idiopathic / immunology*
  • T-Lymphocytes / immunology*

Supplementary concepts

  • T cell immunodeficiency primary