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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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 |
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EdocUR - Universidad del Rosario |
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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 |
_version_ |
1712098345187540992 |
score |
12,131701 |