Autoimmunity and Immune Dysregulation in Primary Immune Deficiency Disorders

  • Heather K. LehmanEmail author
Basic and Applied Science (M Frieri and PJ Bryce, Section Editors)
Part of the following topical collections:
  1. Topical Collection on Basic and Applied Science


Primary immune deficiencies are often associated with autoimmune disease due to the dysregulation of the immune system as a whole. In many immune deficiencies, lymphocytes may be present but dysfunctional, allowing for the development of excessive autoreactivity and resultant autoimmune disease. Autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, autoimmune lymphoproliferative syndrome, immunodyregulation polyendocrinopathy enteropathy X-linked, IL-10/IL-10 receptor deficiencies, and PLCG2-associated antibody deficiency and immune dysregulation are disorders in which autoimmunity is a hallmark of the clinical disease presentation. In contrast, adaptive and innate immune deficiencies, which are typically defined by their infectious susceptibilities, can be associated with variable rates of autoimmune manifestations, predominantly autoimmune cytopenias. This review describes the immune dysregulation and autoimmune manifestations that may be encountered in various immune deficiencies.


Autoimmunity Primary immune deficiency diseases Immune dysregulation 


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Conflict of Interest

Dr Lehman declares no conflict of interest.

Human and Animal Rights and Informed Consent

This article does not contain any studies with human or animal subjects performed by any of the authors.


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Copyright information

© Springer Science+Business Media New York 2015

Authors and Affiliations

  1. 1.Division of Allergy, Immunology and Pediatric Rheumatology, Department of Pediatrics, Women’s and Children’s Hospital of BuffaloSUNY at Buffalo, School of Medicine and Biomedical SciencesBuffaloUSA

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