New mutation in FOXP3 gene identified in an infant with chronic diarrhea as manifestation of autoinmune enteropathy - IPEX syndrome

Abstract

Introduction: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syndrome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endocrine disorders, and dermatitis. The treatment is the administration of immunosuppressive drugs, where hematopoietic stem cell transplantation is the only potential cure.

Objective: To describe a new FOXP3 gene mutation, as well as the findings and evolution of a patient with IPEX syndrome. C

linical Case: Male infant presenting at one month of age with chronic diarrhea, intestinal failure, and recurrent infections. Lab tests and intestinal biopsy suggested autoimmune enteropathy. During follow-up, the patient presented resistance to immunosuppressive treatment with corticosteroids, cyclosporine, and tacrolimus, dying at 7 months of age due to vascular complications. He had a maternal family history of multiple deaths of men under 1 year of age. IPEX syndrome was suspected therefore a trio whole-exome sequencing was performed that showed a probably pathogenic FOXP3 gene mutation.

Conclusion: A new FOXP3 gene mutation is reported in a patient with IPEX syndrome. Despite the low prevalence of this disease, it is important to recognize non-specific but suggestive symptoms for its diagnosis.