Primary immunodeficiency and autoimmunity: A comprehensive review
The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different components of the innate and adaptive responses. The number of distinct genetic PIDs has increased exponentially with improved methods of detection and advanced laboratory methodology. Patients with PID...
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ir-10336-222642022-05-02T12:37:13Z Primary immunodeficiency and autoimmunity: A comprehensive review Amaya-Uribe L. Rojas M. Azizi G. Anaya, Juan-Manuel Gershwin M.E. Cytotoxic T lymphocyte antigen 4 Interleukin 2 receptor alpha STAT protein Allergy Ataxia telangiectasia Autoimmune disease Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy Autoimmunity Chronic granulomatous disease Common variable immunodeficiency Complement deficiency Digeorge syndrome Disease predisposition Endocrine system Gastrointestinal tract Gene rearrangement Genetic disorder Human Hyper ige syndrome Hyper igm syndrome Immune deficiency Immunological tolerance Molecular mimicry Omenn syndrome Pathophysiology Phagocytosis Polyendocrinopathy Prevalence Priority journal Recurrent infection Regulatory T lymphocyte Review Th17 cell Wiskott Aldrich syndrome X linked agammaglobulinemia Autoimmune diseases Autoimmunity Immunodeficiencies Immunologic deficiency syndromes Primary immunodeficiency The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different components of the innate and adaptive responses. The number of distinct genetic PIDs has increased exponentially with improved methods of detection and advanced laboratory methodology. Patients with PIDs have an increased susceptibility to infectious diseases and non-infectious complications including allergies, malignancies and autoimmune diseases (ADs), the latter being the first manifestation of PIDs in several cases. There are two types of PIDS. Monogenic immunodeficiencies due to mutations in genes involved in immunological tolerance that increase the predisposition to develop autoimmunity including polyautoimmunity, and polygenic immunodeficiencies characterized by a heterogeneous clinical presentation that can be explained by a complex pathophysiology and which may have a multifactorial etiology. The high prevalence of ADs in PIDs demonstrates the intricate relationships between the mechanisms of these two conditions. Defects in central and peripheral tolerance, including mutations in AIRE and T regulatory cells respectively, are thought to be crucial in the development of ADs in these patients. In fact, pathology that leads to PID often also impacts the Treg/Th17 balance that may ease the appearance of a proinflammatory environment, increasing the odds for the development of autoimmunity. Furthermore, the influence of chronic and recurrent infections through molecular mimicry, bystander activation and super antigens activation are supposed to be pivotal for the development of autoimmunity. These multiple mechanisms are associated with diverse clinical subphenotypes that hinders an accurate diagnosis in clinical settings, and in some cases, may delay the selection of suitable pharmacological therapies. Herein, a comprehensively appraisal of the common mechanisms among these conditions, together with clinical pearls for treatment and diagnosis is presented. © 2019 Elsevier Ltd 2019 2020-05-25T23:55:55Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 10959157 08968411 https://repository.urosario.edu.co/handle/10336/22264 https://doi.org/10.1016/j.jaut.2019.01.011 eng info:eu-repo/semantics/openAccess application/pdf Academic Press instname:Universidad del Rosario |
institution |
EdocUR - Universidad del Rosario |
collection |
DSpace |
language |
Inglés (English) |
topic |
Cytotoxic T lymphocyte antigen 4 Interleukin 2 receptor alpha STAT protein Allergy Ataxia telangiectasia Autoimmune disease Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy Autoimmunity Chronic granulomatous disease Common variable immunodeficiency Complement deficiency Digeorge syndrome Disease predisposition Endocrine system Gastrointestinal tract Gene rearrangement Genetic disorder Human Hyper ige syndrome Hyper igm syndrome Immune deficiency Immunological tolerance Molecular mimicry Omenn syndrome Pathophysiology Phagocytosis Polyendocrinopathy Prevalence Priority journal Recurrent infection Regulatory T lymphocyte Review Th17 cell Wiskott Aldrich syndrome X linked agammaglobulinemia Autoimmune diseases Autoimmunity Immunodeficiencies Immunologic deficiency syndromes Primary immunodeficiency |
spellingShingle |
Cytotoxic T lymphocyte antigen 4 Interleukin 2 receptor alpha STAT protein Allergy Ataxia telangiectasia Autoimmune disease Autoimmune lymphoproliferative syndrome Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy Autoimmunity Chronic granulomatous disease Common variable immunodeficiency Complement deficiency Digeorge syndrome Disease predisposition Endocrine system Gastrointestinal tract Gene rearrangement Genetic disorder Human Hyper ige syndrome Hyper igm syndrome Immune deficiency Immunological tolerance Molecular mimicry Omenn syndrome Pathophysiology Phagocytosis Polyendocrinopathy Prevalence Priority journal Recurrent infection Regulatory T lymphocyte Review Th17 cell Wiskott Aldrich syndrome X linked agammaglobulinemia Autoimmune diseases Autoimmunity Immunodeficiencies Immunologic deficiency syndromes Primary immunodeficiency Amaya-Uribe L. Rojas M. Azizi G. Anaya, Juan-Manuel Gershwin M.E. Primary immunodeficiency and autoimmunity: A comprehensive review |
description |
The primary immunodeficiency diseases (PIDs) include many genetic disorders that affect different components of the innate and adaptive responses. The number of distinct genetic PIDs has increased exponentially with improved methods of detection and advanced laboratory methodology. Patients with PIDs have an increased susceptibility to infectious diseases and non-infectious complications including allergies, malignancies and autoimmune diseases (ADs), the latter being the first manifestation of PIDs in several cases. There are two types of PIDS. Monogenic immunodeficiencies due to mutations in genes involved in immunological tolerance that increase the predisposition to develop autoimmunity including polyautoimmunity, and polygenic immunodeficiencies characterized by a heterogeneous clinical presentation that can be explained by a complex pathophysiology and which may have a multifactorial etiology. The high prevalence of ADs in PIDs demonstrates the intricate relationships between the mechanisms of these two conditions. Defects in central and peripheral tolerance, including mutations in AIRE and T regulatory cells respectively, are thought to be crucial in the development of ADs in these patients. In fact, pathology that leads to PID often also impacts the Treg/Th17 balance that may ease the appearance of a proinflammatory environment, increasing the odds for the development of autoimmunity. Furthermore, the influence of chronic and recurrent infections through molecular mimicry, bystander activation and super antigens activation are supposed to be pivotal for the development of autoimmunity. These multiple mechanisms are associated with diverse clinical subphenotypes that hinders an accurate diagnosis in clinical settings, and in some cases, may delay the selection of suitable pharmacological therapies. Herein, a comprehensively appraisal of the common mechanisms among these conditions, together with clinical pearls for treatment and diagnosis is presented. © 2019 Elsevier Ltd |
format |
Artículo (Article) |
author |
Amaya-Uribe L. Rojas M. Azizi G. Anaya, Juan-Manuel Gershwin M.E. |
author_facet |
Amaya-Uribe L. Rojas M. Azizi G. Anaya, Juan-Manuel Gershwin M.E. |
author_sort |
Amaya-Uribe L. |
title |
Primary immunodeficiency and autoimmunity: A comprehensive review |
title_short |
Primary immunodeficiency and autoimmunity: A comprehensive review |
title_full |
Primary immunodeficiency and autoimmunity: A comprehensive review |
title_fullStr |
Primary immunodeficiency and autoimmunity: A comprehensive review |
title_full_unstemmed |
Primary immunodeficiency and autoimmunity: A comprehensive review |
title_sort |
primary immunodeficiency and autoimmunity: a comprehensive review |
publisher |
Academic Press |
publishDate |
2019 |
url |
https://repository.urosario.edu.co/handle/10336/22264 https://doi.org/10.1016/j.jaut.2019.01.011 |
_version_ |
1740172420046651392 |
score |
12,131701 |