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Clinical, Immunological, and Genetic Features in Patients With Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (Ipex) and Ipex-Like Syndrome Publisher Pubmed



Jamee M1, 2 ; Zakidizaji M3 ; Lo B4 ; Abolhassani H5, 6 ; Aghamahdi F7 ; Mosavian M7 ; Nademi Z8 ; Mohammadi H7 ; Jadidiniaragh F9 ; Rojas M10 ; Anaya JM10 ; Azizi G7
Authors
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Authors Affiliations
  1. 1. Student Research Committee, Alborz University of Medical Sciences, Karaj, Iran
  2. 2. Alborz Office of USERN, Universal Scientific Education and Research Network (USERN), Alborz University of Medical Sciences, Karaj, Iran
  3. 3. Legal Medicine Research Center, Legal Medicine Organization, Tehran, Iran
  4. 4. Sidra Medicine, Division of Translational Medicine, Research Branch, Doha, Qatar
  5. 5. Research Center for Immunodeficiencies, Children's Medical Center, Tehran University of Medical Sciences, Tehran, Iran
  6. 6. Division of Clinical Immunology, Department of Laboratory Medicine, Karolinska Institute at Karolinska University Hospital Huddinge, Stockholm, Sweden
  7. 7. Non-communicable Diseases Research Center, Alborz University of Medical Sciences, Karaj, Iran
  8. 8. Children's Bone Marrow Transplant Unit, Great North Children's Hospital, Newcastle, United Kingdom
  9. 9. Immunology Research Center, Tabriz University of Medical Sciences, Tabriz, Iran
  10. 10. Center for Autoimmune Diseases Research (CREA), School of Medicine and Health Sciences, Universidad del Rosario, Bogota, Colombia

Source: Journal of Allergy and Clinical Immunology: In Practice Published:2020


Abstract

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. © 2020 American Academy of Allergy, Asthma & Immunology
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