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Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.

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dc.creatorJamee, Mahnazspa
dc.creatorZaki-Dizaji, Majidspa
dc.creatorLo, Bernicespa
dc.creatorAbolhassani, Hassanspa
dc.creatorAghamahdi, Fatemehspa
dc.creatorMosavian, Mehdispa
dc.creatorNademi, Zohrehspa
dc.creatorMohammadi, Hamedspa
dc.creatorJadidi-Niaragh, Farhadspa
dc.creatorRojas Quintana, Manuel Eduardospa
dc.creatorAnaya, Juan-Manuelspa
dc.creatorAzizi, Gholamrezaspa
dc.date.accessioned2020-06-11T13:20:46Z
dc.date.available2020-06-11T13:20:46Z
dc.date.created2020spa
dc.description.abstractBACKGROUND: Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) syndrome is a rare inborn error of immunity caused by mutations in the forkhead box P3 (FOXP3) gene.OBJECTIVE: In this study, we conducted a systematic review of IPEX and IPEX-like patients to delineate differences in these two major groups.METHODS: The literature search was performed in PubMed, Web of Science and Scopus databases and demographic, clinical, immunologic, and molecular data were compared between IPEX (n= 312) and IPEX-like (n= 98) groups.RESULTS: A total of 459 patients were reported in 148 eligible articles. Major clinical differences between IPEX and IPEX-like patients were observed in rates of pneumonia (11% vs. 31%, p<0.001), bronchiectasis (0.3% vs. 14%, p<0.001), diarrhea (56% vs. 42%, p=0.020), and organomegaly (10% vs. 23%, p=0.001), respectively. Eosinophilia (95% vs. 100%), low regulatory T cell count (68% vs. 50%), and elevated IgE (87% vs. 61%) were the most prominent laboratory findings in IPEX and IPEX-like patients, respectively. In IPEX group, a lower mortality rate was observed among patients receiving HSCT (24%) compared to other patients (43%), p=0.008, however, in IPEX-like group it was not significant (p=0.189).CONCLUSIONS: Patients with IPEX syndrome generally suffer from enteropathy, autoimmunity, dermatitis, eosinophilia, and elevated serum IgE. Despite similarities in their clinical presentations, patients with IPEX-like syndrome are more likely to present CVID-like phenotype such as respiratory tract infections, bronchiectasis, and organomegaly. HSCT is currently the only curative therapy for both IPEX and IPEX-like syndrome and may result in favorable outcome.eng
dc.format.mimetypeapplication/pdf
dc.identifier.doihttps://doi.org/10.1016/j.jaip.2020.04.070
dc.identifier.issn2213-2201
dc.identifier.urihttps://repository.urosario.edu.co/handle/10336/24566
dc.language.isoeng
dc.publisherElsevierspa
dc.relation.citationTitleThe journal of allergy and clinical immunology. In practice
dc.relation.ispartofThe journal of allergy and clinical immunology. In practice, ISSN:2213-2201 (2020); pp. -spa
dc.rights.accesRightsinfo:eu-repo/semantics/closedAccess
dc.rights.accesoBloqueado (Texto referencial)spa
dc.source.instnameinstname:Universidad del Rosariospa
dc.source.reponamereponame:Repositorio Institucional EdocURspa
dc.subject.keywordAutoimmunityspa
dc.subject.keywordFOXP3spa
dc.subject.keywordIPEXspa
dc.subject.keywordIPEX-likespa
dc.subject.keywordImmunodysregulationspa
dc.subject.keywordPolyendocrinopathyspa
dc.subject.keywordX-Linkedspa
dc.subject.keywordand Enteropathyspa
dc.titleClinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.spa
dc.typearticleeng
dc.type.hasVersioninfo:eu-repo/semantics/publishedVersion
dc.type.spaArtículospa
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