Autoimmune disease in primary immunodeficiency: At the Crossroads of Anti-Infective Immunity and Self-Tolerance

Maryam Saifi, Christian A. Wysocki

Research output: Contribution to journalArticle

10 Scopus citations


The association of autoimmunity and primary immunodeficiency suggests the existence of mechanistic links between development of the various elements of the immune system and the maintenance of self-tolerance. In this review, various monogenic primary immunodeficiencies (PID) are systematically explored, with a specific focus on the impact of these genetic lesions on tolerance, correlating these defects in tolerance with clinical autoimmune and inflammatory syndromes seen in these PIDs. Common variable immunodeficiency (CVID) is explored, and areas are highlighted in which findings in monogenic PID are beginning to illuminate the mechanisms behind these conditions in CVID.

Original languageEnglish (US)
Pages (from-to)731-752
Number of pages22
JournalImmunology and Allergy Clinics of North America
Issue number4
Publication statusPublished - Nov 1 2015



  • Apoptosis
  • Autoimmunity
  • Common variable immunodeficiency
  • Primary immunodeficiency
  • Regulatory T cell
  • Tolerance

ASJC Scopus subject areas

  • Immunology and Allergy
  • Immunology

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