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Primary immunodeficiency and autoimmunity: A comprehensive review

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dc.creatorAmaya-Uribe L.spa
dc.creatorRojas M.spa
dc.creatorAzizi G.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorGershwin M.E.spa
dc.date.accessioned2020-05-25T23:55:55Z
dc.date.available2020-05-25T23:55:55Z
dc.date.created2019spa
dc.description.abstractThe 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 Ltdeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jaut.2019.01.011
dc.identifier.issn10959157
dc.identifier.issn08968411
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22264
dc.language.isoengspa
dc.publisherAcademic Pressspa
dc.relation.citationEndPage72
dc.relation.citationStartPage52
dc.relation.citationTitleJournal of Autoimmunity
dc.relation.citationVolumeVol. 99
dc.relation.ispartofJournal of Autoimmunity, ISSN:10959157, 08968411, Vol.99,(2019); pp. 52-72spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85064217562&doi=10.1016%2fj.jaut.2019.01.011&partnerID=40&md5=7947248051b28baf22461564ba97564bspa
dc.rights.accesRightsinfo:eu-repo/semantics/openAccess
dc.rights.accesoAbierto (Texto Completo)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordCytotoxic T lymphocyte antigen 4spa
dc.subject.keywordInterleukin 2 receptor alphaspa
dc.subject.keywordSTAT proteinspa
dc.subject.keywordAllergyspa
dc.subject.keywordAtaxia telangiectasiaspa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordAutoimmune lymphoproliferative syndromespa
dc.subject.keywordAutoimmune polyendocrinopathy candidiasis ectodermal dystrophyspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordChronic granulomatous diseasespa
dc.subject.keywordCommon variable immunodeficiencyspa
dc.subject.keywordComplement deficiencyspa
dc.subject.keywordDigeorge syndromespa
dc.subject.keywordDisease predispositionspa
dc.subject.keywordEndocrine systemspa
dc.subject.keywordGastrointestinal tractspa
dc.subject.keywordGene rearrangementspa
dc.subject.keywordGenetic disorderspa
dc.subject.keywordHumanspa
dc.subject.keywordHyper ige syndromespa
dc.subject.keywordHyper igm syndromespa
dc.subject.keywordImmune deficiencyspa
dc.subject.keywordImmunological tolerancespa
dc.subject.keywordMolecular mimicryspa
dc.subject.keywordOmenn syndromespa
dc.subject.keywordPathophysiologyspa
dc.subject.keywordPhagocytosisspa
dc.subject.keywordPolyendocrinopathyspa
dc.subject.keywordPrevalencespa
dc.subject.keywordPriority journalspa
dc.subject.keywordRecurrent infectionspa
dc.subject.keywordRegulatory T lymphocytespa
dc.subject.keywordReviewspa
dc.subject.keywordTh17 cellspa
dc.subject.keywordWiskott Aldrich syndromespa
dc.subject.keywordX linked agammaglobulinemiaspa
dc.subject.keywordAutoimmune diseasesspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordImmunodeficienciesspa
dc.subject.keywordImmunologic deficiency syndromesspa
dc.subject.keywordPrimary immunodeficiencyspa
dc.titlePrimary immunodeficiency and autoimmunity: A comprehensive reviewspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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