Clinical Reviews in Allergy & Immunology

, Volume 34, Issue 2, pp 141–145

Immune Deficiency Disorders with Autoimmunity and Abnormalities in Immune Regulation—Monogenic Autoimmune Diseases


DOI: 10.1007/s12016-007-8038-x

Cite this article as:
Lehman, H.K. & Ballow, M. Clinic Rev Allerg Immunol (2008) 34: 141. doi:10.1007/s12016-007-8038-x


Autoimmunity is frequently observed in patients with primary immune deficiency disorders. Monogenic autoimmune diseases include a group of disorders with characteristic autoimmunity and immune deficiency for which single gene defects have been identified. Currently recognized monogenic autoimmune diseases include autoimmune polyendocrinopathy candidiasis and ectodermal dystrophy, immunodysregulation polyendocrinopathy enteropathy and X-linked inheritance syndrome, autoimmune lymphoproliferative syndrome, and interleukin-2 receptor alpha-chain deficiency. These diseases offer important insights into the mechanisms of central and peripheral immune tolerance and the pathogenesis of defects in these mechanisms.


Autoimmunityautoimmune polyendocrinopathiesautoimmune polyendocrinopathy candidiais and ectodermal dystrophyautoimmune lymphoproliferative syndromeimmunodysregulation polyendocrinopathy enteropathy and X-linked inheritance syndromeinterleukin-2 receptors

Copyright information

© Humana Press Inc. 2007

Authors and Affiliations

  1. 1.Division of Allergy/Immunology, Department of PediatricsWomen and Children’s Hospital of Buffalo, University at Buffalo School of Medicine and Biomedical SciencesBuffaloUSA