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Background:  Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-linked (IPEX) Syndrome is a rare recessive disorder caused by mutations in the  FOXP3  gene. In addition, there has been an increasing number of patients with wild-type  FOXP3  gene and, in some cases, mutations in other immune regulatory genes.   Objective:  To molecularly asses a cohort of 173 patients with the IPEX phenotype and to delineate the relationship between the clinical/immunologic phenotypes and the genotypes.   Methods:  We reviewed the clinical presentation and laboratory characteristics of each patient and compared clinical and laboratory data of  FOXP3  mutation-positive (IPEX patients) with those from  FOXP3  mutation-negative patients (IPEX-like). A total of 173 affected patients underwent direct sequence analysis of the  FOXP3  gene while 85 IPEX-like patients with normal FOXP3 were investigated by a multiplex panel of “Primary Immune Deficiency (PID—related) genes.”   Results:  Forty-four distinct  FOXP3  variants were identified in 88 IPEX patients, 9 of which were not previously reported. Among the 85 IPEX-like patients, 19 different disease-associated variants affecting 9 distinct genes were identified.   Conclusions:  We provide a comprehensive analysis of the clinical features and molecular bases of IPEX and IPEX-like patients. Although we were not able to identify major distinctive clinical features to differentiate IPEX from IPEX-like syndromes, we propose a simple flow-chart to effectively evaluate such patients and to focus on the most likely molecular diagnosis. Given the large number of potential candidate genes and overlapping phenotypes, selecting a panel of PID-related genes will facilitate a molecular diagnosis.

frontiers in immunology

Clinical, Immunological, and Molecular Heterogeneity of 173 Patients With the Phenotype of Immune Dysregulation, Polyendocrinopathy, Enteropathy, X-Linked (IPEX) Syndrome