Monogenic polyautoimmunity in primary immunodeficiency diseases |
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| Authors: | Gholamreza Azizi Reza Yazdani Wiliam Rae Hassan Abolhassani Manuel Rojas Asghar Aghamohammadi Juan-Manuel Anaya |
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| Institution: | 1. Non-Communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran;2. Research Center for Immunodeficiencies, Children''s Medical Center, Tehran University of Medical Sciences, Tehran, Iran;3. Primary Immunodeficiency Diseases Network (PIDNet), Universal Scientific Education and Research Network (USERN), Tehran, Iran;4. Department of Immunology, MP8, University Hospital Southampton NHS Foundation Trust, Tremona Road, Southampton, Hampshire SO16 6YD, UK;5. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden;6. Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogota, Colombia |
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| Abstract: | 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. |
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