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 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