Autoimmunity and Primary Immunodeficiency Disorders

J Clin Immunol. 2016 May;36 Suppl 1:57-67. doi: 10.1007/s10875-016-0294-1. Epub 2016 May 23.


Advances in DNA sequencing technologies have led to a quickening in the pace at which new genetic immunodeficiency disorders have been identified. Among the newly identified defects are a number of disorders that present primarily with autoimmunity as opposed to recurrent infections. These "immune dysregulation" disorders have begun to cluster together to form an increased understanding of some of the basic molecular mechanisms that underlie the establishment and maintenance of immune tolerance and the development of autoimmunity. This review will present three major themes that have emerged in our understanding of the mechanisms that underlie autoimmunity and immune dysregulation in humans.

Keywords: CTLA4—cytotoxic T lymphocyte-associated protein 4; CVID—common variable immune deficiency; IL-10—interleukin-10; IPEX—immune dysregulation, polyendocrinopathy, enteropathy, X-linked; NF-κB—nuclear factor-kappa binding; PIDD—primary immunodeficiency disorders; STAT—signal transducer and activator of transcription; Treg—regulatory T cell.

Publication types

  • Review

MeSH terms

  • Animals
  • Autoimmune Diseases / diagnosis
  • Autoimmune Diseases / etiology
  • Autoimmune Diseases / metabolism
  • Autoimmune Diseases / therapy
  • Autoimmunity* / genetics
  • Host-Pathogen Interactions / genetics
  • Host-Pathogen Interactions / immunology
  • Humans
  • Immunity, Innate
  • Immunologic Deficiency Syndromes / diagnosis
  • Immunologic Deficiency Syndromes / etiology*
  • Immunologic Deficiency Syndromes / metabolism*
  • Immunologic Deficiency Syndromes / therapy
  • Organ Specificity / genetics
  • Organ Specificity / immunology
  • Signal Transduction
  • T-Lymphocyte Subsets / cytology
  • T-Lymphocyte Subsets / immunology
  • T-Lymphocyte Subsets / metabolism