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

BACKGROUND: 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...

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Autores Principales: Jamee, Mahnaz, Zaki-Dizaji, Majid, Lo, Bernice, Abolhassani, Hassan, Aghamahdi, Fatemeh, Mosavian, Mehdi, Nademi, Zohreh, Mohammadi, Hamed, Jadidi-Niaragh, Farhad, Rojas, Manuel, Anaya, Juan-Manuel, Azizi, Gholamreza
Formato: Artículo (Article)
Lenguaje:Inglés (English)
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://repository.urosario.edu.co/handle/10336/24566
https://doi.org/10.1016/j.jaip.2020.04.070
id ir-10336-24566
recordtype dspace
spelling ir-10336-245662021-08-12T02:11:27Z Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome. Jamee, Mahnaz Zaki-Dizaji, Majid Lo, Bernice Abolhassani, Hassan Aghamahdi, Fatemeh Mosavian, Mehdi Nademi, Zohreh Mohammadi, Hamed Jadidi-Niaragh, Farhad Rojas, Manuel Anaya, Juan-Manuel Azizi, Gholamreza Autoimmunity FOXP3 IPEX IPEX-like Immunodysregulation Polyendocrinopathy X-Linked and Enteropathy BACKGROUND: 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. 2020 2020-06-11T13:20:46Z info:eu-repo/semantics/article info:eu-repo/semantics/publishedVersion 2213-2201 https://repository.urosario.edu.co/handle/10336/24566 https://doi.org/10.1016/j.jaip.2020.04.070 eng info:eu-repo/semantics/closedAccess application/pdf Elsevier instname:Universidad del Rosario reponame:Repositorio Institucional EdocUR
institution EdocUR - Universidad del Rosario
collection DSpace
language Inglés (English)
topic Autoimmunity
FOXP3
IPEX
IPEX-like
Immunodysregulation
Polyendocrinopathy
X-Linked
and Enteropathy
spellingShingle Autoimmunity
FOXP3
IPEX
IPEX-like
Immunodysregulation
Polyendocrinopathy
X-Linked
and Enteropathy
Jamee, Mahnaz
Zaki-Dizaji, Majid
Lo, Bernice
Abolhassani, Hassan
Aghamahdi, Fatemeh
Mosavian, Mehdi
Nademi, Zohreh
Mohammadi, Hamed
Jadidi-Niaragh, Farhad
Rojas, Manuel
Anaya, Juan-Manuel
Azizi, Gholamreza
Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
description BACKGROUND: 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.
format Artículo (Article)
author Jamee, Mahnaz
Zaki-Dizaji, Majid
Lo, Bernice
Abolhassani, Hassan
Aghamahdi, Fatemeh
Mosavian, Mehdi
Nademi, Zohreh
Mohammadi, Hamed
Jadidi-Niaragh, Farhad
Rojas, Manuel
Anaya, Juan-Manuel
Azizi, Gholamreza
author_facet Jamee, Mahnaz
Zaki-Dizaji, Majid
Lo, Bernice
Abolhassani, Hassan
Aghamahdi, Fatemeh
Mosavian, Mehdi
Nademi, Zohreh
Mohammadi, Hamed
Jadidi-Niaragh, Farhad
Rojas, Manuel
Anaya, Juan-Manuel
Azizi, Gholamreza
author_sort Jamee, Mahnaz
title Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
title_short Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
title_full Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
title_fullStr Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
title_full_unstemmed Clinical, immunological, and genetic features in patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome.
title_sort clinical, immunological, and genetic features in patients with immune dysregulation, polyendocrinopathy, enteropathy, x-linked (ipex) and ipex-like syndrome.
publisher Elsevier
publishDate 2020
url https://repository.urosario.edu.co/handle/10336/24566
https://doi.org/10.1016/j.jaip.2020.04.070
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