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Article

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

Revista chilena de pediatria - 1 Aug 2020

Plata García Clara, Martín-Marín Lorena, Soler-Ramírez Angela, Rojas Jorge A, Salazar María P

Abstract excerpt

INTRODUCTION: The IPEX (immune dysregulation, polyendocrinopathy, enteropathy, X-linked) syn drome is caused by the mutations of the FOXP3 gene, characterized by persistent diarrhea, endo crine 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...

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Identifiers

PMID: 33399737
DOI: 10.32641/rchped.v91i4.1467

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