Work

Síndrome de Disfunção Imune, Poliendocrinopatia e Enteropatia Ligada ao X com Início Neonatal: Descrição de Caso

Year: 2026

Type: article

Abstract: Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare monogenic autoimmune disorder caused by mutations in the FOXP3 gene. It typically presents in early infancy with severe multisystem autoimmunity. We report the case of a male preterm infant, born at 30 weeks’ gestation, who developed enteropathy, eczema, eosinophilia, and transfusion-dependent cytopenias. Recurrent infections and a desquamative rash raised suspicion of an inborn error of immunity. Immunological studies revealed absent FOXP3 expression, and genetic testing confirmed a hemizygous pathogenic variant in FOXP3 (c.1076C>T), establishing the diagnosis. Immunosuppressive therapy with corticosteroids and sirolimus was initiated, and the patient was referred for hematopoietic stem cell transplantation. From the cases reported in the literature, this is the first neonatal onset case of IPEX reported in Portugal. This case highlights the importance of suspecting IPEX syndrome in infants with early-onset autoimmunity and immunodeficiency, enabling timely diagnosis and improved outcomes in this life-threatening condition.

Source: Portuguese National Funding Agency for Science, Research and Technology (RCAAP Project by FCT)

Authors: Costa Branco, Joana, Cunha, Margarida, Dias Curado, Ana, Girbal, Inês, Esteves, Isabel, Valente, Sandra

Institution: Unidade Local de Saúde Santa Maria

Language: English

Topic: Immunodeficiency and Autoimmune Disorders

Subfield: Immunology

Field: Immunology and Microbiology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: green

OpenAlex ID: W7133269653

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