Descripción: Monogenic polyautoimmunity in primary immunodeficiency diseases

Monogenic polyautoimmunity in primary immunodeficiency diseases

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...

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Detalles Bibliográficos
Autores Principales:	Azizi G., Yazdani R., Rae W., Abolhassani H., Rojas M., Aghamohammadi A., Anaya, Juan-Manuel
Formato:	Artículo (Article)
Lenguaje:	Inglés (English)
Publicado:	Elsevier B.V. 2018
Materias:	Interleukin 2 receptor alpha Stat protein Transcription factor Transcription factor bch2 Ubiquitin protein ligase e3 Unclassified drug Signal transducing adaptor protein Activated phosphoinositide 3 kinase delta syndrome Autoimmune disease Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy Autoimmune polyglandular syndrome Cytotoxic t lymphocyte antigen 4 deficiency Gene mutation Haploinsufficiency Human Immune deficiency Ipex syndrome Itchy e3 ubiquitin protein ligase deficiency Jak-stat signaling Lps responsive beige like anchor protein deficiency Monogenic disorder Nonhuman Omenn syndrome Pathogenesis Phenotype Polyautoimmunity Primary immunodeficiency disease Protein expression Protein kinase c delta deficiency Review Animal Genetics Immunological tolerance Immunology Mutation Pathophysiology Animals Autoimmune diseases Humans Immune tolerance Immunologic deficiency syndromes Autoimmunity Ctla4 Ipex Lrba Polyglandular autoimmune syndromes Primary immunodeficiency Regulatory t cell signal transducing Adaptor proteins
Acceso en línea:	https://repository.urosario.edu.co/handle/10336/23289 https://doi.org/10.1016/j.autrev.2018.05.001

Descripción
Sumario:	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 PKC? deficiency. © 2018 Elsevier B.V.

Monogenic polyautoimmunity in primary immunodeficiency diseases

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