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Clinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Review

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dc.creatorHabibi S.spa
dc.creatorZaki-Dizaji M.spa
dc.creatorRafiemanesh H.spa
dc.creatorLo B.spa
dc.creatorJamee M.spa
dc.creatorGámez-Díaz L.spa
dc.creatorSalami F.spa
dc.creatorKamali A.N.spa
dc.creatorMohammadi H.spa
dc.creatorAbolhassani H.spa
dc.creatorYazdani R.spa
dc.creatorAghamohammadi A.spa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorAzizi G.spa
dc.date.accessioned2020-05-25T23:55:49Z
dc.date.available2020-05-25T23:55:49Z
dc.date.created2019spa
dc.description.abstractBackground: LPS-responsive beige-like anchor protein (LRBA) deficiency is a primary immunodeficiency and immune dysregulation syndrome caused by biallelic mutations in the LRBA gene. These mutations usually abrogate the protein expression of LRBA, leading to a broad spectrum of clinical phenotypes including autoimmunity, chronic diarrhea, hypogammaglobulinemia, and recurrent infections. Objective: Our aim was to systematically collect all studies reporting on the clinical manifestations, molecular and laboratory findings, and management of patients with LRBA deficiency. Methods: We searched in PubMed, Web of Science, and Scopus without any restrictions on study design and publication time. A total of 109 LRBA-deficient cases were identified from 45 eligible articles. For all patients, demographic information, clinical records, and immunologic and molecular data were collected. Results: Of the patients with LRBA deficiency, 93 had homozygous and 16 had compound heterozygous mutations in LRBA. The most common clinical manifestations were autoimmunity (82%), enteropathy (63%), splenomegaly (57%), and pneumonia (49%). Reduction in numbers of CD4+ T cells and regulatory T cells as well as IgG levels was recorded for 21.6%, 65.6%, and 54.2% of evaluated patients, respectively. B-cell subpopulation analysis revealed low numbers of switched-memory and increased numbers of CD21low B cells in 73.5% and 77.8% of patients, respectively. Eighteen (16%) patients underwent hematopoietic stem cell transplantation due to the severity of complications and the outcomes improved in 13 of them. Conclusions: Autoimmune disorders are the main clinical manifestations of LRBA deficiency. Therefore, LRBA deficiency should be included in the list of monogenic autoimmune diseases, and screening for LRBA mutations should be routinely performed for patients with these conditions. © 2019 American Academy of Allergy, Asthma and Immunologyeng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jaip.2019.04.011
dc.identifier.issn22132198
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/22225
dc.language.isoengspa
dc.publisherAmerican Academy of Allergy, Asthma and Immunologyspa
dc.relation.citationEndPage2386.e5
dc.relation.citationIssueNo. 7
dc.relation.citationStartPage2379
dc.relation.citationTitleJournal of Allergy and Clinical Immunology: In Practice
dc.relation.citationVolumeVol. 7
dc.relation.ispartofJournal of Allergy and Clinical Immunology: In Practice, ISSN:22132198, Vol.7, No.7 (2019); pp. 2379-2386.e5spa
dc.relation.urihttps://www.scopus.com/inward/record.uri?eid=2-s2.0-85065612257&doi=10.1016%2fj.jaip.2019.04.011&partnerID=40&md5=bbc09f0a207280c1df232dc5858b7462spa
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.keywordADP ribosyl cyclase/cyclic ADP ribose hydrolase 1spa
dc.subject.keywordAzathioprinespa
dc.subject.keywordCD19 antigenspa
dc.subject.keywordCD27 antigenspa
dc.subject.keywordCD45RA antigenspa
dc.subject.keywordCD45RO antigenspa
dc.subject.keywordComplement component C3d receptorspa
dc.subject.keywordCorticosteroidspa
dc.subject.keywordCyclosporinespa
dc.subject.keywordImmunoglobulinspa
dc.subject.keywordImmunoglobulin Aspa
dc.subject.keywordImmunoglobulin Dspa
dc.subject.keywordImmunoglobulin Mspa
dc.subject.keywordMycophenolate mofetilspa
dc.subject.keywordRapamycinspa
dc.subject.keywordSalazosulfapyridinespa
dc.subject.keywordSteroidspa
dc.subject.keywordTacrolimusspa
dc.subject.keywordArabspa
dc.subject.keywordArticlespa
dc.subject.keywordAutoimmune diseasespa
dc.subject.keywordB lymphocyte subpopulationspa
dc.subject.keywordCD4 lymphocyte countspa
dc.subject.keywordChronic diarrheaspa
dc.subject.keywordClinical evaluationspa
dc.subject.keywordClinical featurespa
dc.subject.keywordDelayed diagnosisspa
dc.subject.keywordDrug megadosespa
dc.subject.keywordEnteropathyspa
dc.subject.keywordGastrectomyspa
dc.subject.keywordGenespa
dc.subject.keywordGene mutationspa
dc.subject.keywordGenetic screeningspa
dc.subject.keywordGenotype phenotype correlationspa
dc.subject.keywordHematopoietic stem cell transplantationspa
dc.subject.keywordHormone substitutionspa
dc.subject.keywordHumanspa
dc.subject.keywordIdiopathic thrombocytopenic purpuraspa
dc.subject.keywordImmune deficiencyspa
dc.subject.keywordImmune dysregulationspa
dc.subject.keywordImmunoglobulin blood levelspa
dc.subject.keywordImmunoglobulin deficiencyspa
dc.subject.keywordInflammationspa
dc.subject.keywordIranian peoplespa
dc.subject.keywordLow drug dosespa
dc.subject.keywordLPS responsive and beige like anchor protein deficiencyspa
dc.subject.keywordLRBA genespa
dc.subject.keywordMultiple organ failurespa
dc.subject.keywordNephroblastomaspa
dc.subject.keywordPancytopeniaspa
dc.subject.keywordPatient care planningspa
dc.subject.keywordPneumoniaspa
dc.subject.keywordProtein deficiencyspa
dc.subject.keywordProtein expressionspa
dc.subject.keywordRecurrent infectionspa
dc.subject.keywordRegulatory T lymphocytespa
dc.subject.keywordRespiratory failurespa
dc.subject.keywordSepsisspa
dc.subject.keywordSeptic shockspa
dc.subject.keywordSplenomegalyspa
dc.subject.keywordStomach adenocarcinomaspa
dc.subject.keywordSystematic reviewspa
dc.subject.keywordSystemic inflammatory response syndromespa
dc.subject.keywordTurk (people)spa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordEnteropathyspa
dc.subject.keywordHematopoietic stem cell transplantationspa
dc.subject.keywordLRBA deficiencyspa
dc.subject.keywordPolyautoimmunityspa
dc.subject.keywordRegulatory T cellspa
dc.titleClinical, Immunologic, and Molecular Spectrum of Patients with LPS-Responsive Beige-Like Anchor Protein Deficiency: A Systematic Reviewspa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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