Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome

Mahnaz Jamee, Majid Zaki-Dizaji, Bernice Lo, Hassan Abolhassani, Fatemeh Aghamahdi, Mehdi Mosavian, Zohreh Nademi, Hamed Mohammadi, Farhad Jadidi-Niaragh, Manuel Rojas, Juan Manuel Anaya, Gholamreza Azizi

Resultado de la investigación: Contribución a una revistaArtículo

1 Cita (Scopus)

Resumen

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 patients with IPEX and IPEX-like syndrome to delineate differences in these 2 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 the IPEX and IPEX-like groups. Results: A total of 459 patients were reported in 148 eligible articles. Major clinical differences between patients with IPEX and IPEX-like syndrome were observed in rates of pneumonia (11% vs 31%, P < .001), bronchiectasis (0.3% vs 14%, P < .001), diarrhea (56% vs 42%, P = .020), and organomegaly (10% vs 23%, P = .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 patients with IPEX and IPEX-like syndrome, respectively. In the IPEX group, a lower mortality rate was observed among patients receiving hematopoietic stem cell transplantation (HSCT) (24%) compared with other patients (43%), P = .008; however, in the IPEX-like group, it was not significant (P = .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 common variable immunodeficiency–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.

Idioma originalInglés estadounidense
Páginas (desde-hasta)2747-2760.e7
PublicaciónJournal of Allergy and Clinical Immunology: In Practice
Volumen8
N.º8
DOI
EstadoEn prensa - may 16 2020

All Science Journal Classification (ASJC) codes

  • Inmulogía y alergología

Huella Profundice en los temas de investigación de 'Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome'. En conjunto forman una huella única.

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    Jamee, M., Zaki-Dizaji, M., Lo, B., Abolhassani, H., Aghamahdi, F., Mosavian, M., Nademi, Z., Mohammadi, H., Jadidi-Niaragh, F., Rojas, M., Anaya, J. M., & Azizi, G. (Aceptado/En prensa). Clinical, Immunological, and Genetic Features in Patients with Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) and IPEX-like Syndrome. Journal of Allergy and Clinical Immunology: In Practice, 8(8), 2747-2760.e7. https://doi.org/10.1016/j.jaip.2020.04.070