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

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 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 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.