TY - JOUR
T1 - Monogenic polyautoimmunity in primary immunodeficiency diseases
AU - Azizi, Gholamreza
AU - Yazdani, Reza
AU - Rae, Wiliam
AU - Abolhassani, Hassan
AU - Rojas, Manuel
AU - Aghamohammadi, Asghar
AU - Anaya, Juan Manuel
N1 - Funding Information:
This work was supported by vice chancellor for research, Alborz University of Medical Sciences (Grant No. 97-03-25-1765 ), Karaj, Iran; and Universidad del Rosario, Bogota, Colombia.
Publisher Copyright:
© 2018 Elsevier B.V.
Copyright:
Copyright 2018 Elsevier B.V., All rights reserved.
PY - 2018/10
Y1 - 2018/10
N2 - 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.
AB - 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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U2 - 10.1016/j.autrev.2018.05.001
DO - 10.1016/j.autrev.2018.05.001
M3 - Review article
C2 - 30107266
AN - SCOPUS:85051630742
SN - 1568-9972
VL - 17
SP - 1028
EP - 1039
JO - Autoimmunity Reviews
JF - Autoimmunity Reviews
IS - 10
ER -