Monogenic polyautoimmunity in primary immunodeficiency diseases

Gholamreza Azizi, Reza Yazdani, Wiliam Rae, Hassan Abolhassani, Manuel Rojas, Asghar Aghamohammadi, Juan Manuel Anaya

Research output: Contribution to journalReview articlepeer-review

27 Scopus citations


Primary immunodeficiency diseases (PIDs) consist of a large group of genetic disorders that affect distinct components of the immune system. PID patients are susceptible to infection and non-infectious complications, particularly autoimmunity. A specific group of monogenic PIDs are due to mutations in genes that are critical for the regulation of immunological tolerance and immune responses. This group of monogenic PIDs is at high risk of developing polyautoimmunity (i.e., the presence of more than one autoimmune disease in a single patient) because of their impaired immunity. In this review, we discuss the mechanisms of autoimmunity in PIDs and the characteristics of polyautoimmunity in the following PIDs: IPEX; monogenic IPEX-like syndrome; LRBA deficiency; CTLA4 deficiency; APECED; ALPS; and PKCδ deficiency.

Original languageEnglish (US)
Pages (from-to)1028-1039
Number of pages12
JournalAutoimmunity Reviews
Issue number10
StatePublished - Oct 2018

All Science Journal Classification (ASJC) codes

  • Immunology and Allergy
  • Immunology


Dive into the research topics of 'Monogenic polyautoimmunity in primary immunodeficiency diseases'. Together they form a unique fingerprint.

Cite this