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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Autores Principales: Amaya-Uribe L., Rojas M., Azizi G., Anaya, Juan-Manuel, Gershwin M.E.
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Academic Press 2019
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/22264
https://doi.org/10.1016/j.jaut.2019.01.011
id ir-10336-22264
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spelling 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