Immune Dysregulation, Polyendocrinopathy and Enteropathy X-Linked Syndrome with Neonatal Onset: A Case Report.
Joana Costa Branco, Margarida Cunha, Ana Dias Curado et al.
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Case in brief
A male infant born preterm at 30 weeks’ gestation developed enteropathy, eczema, eosinophilia, transfusion-dependent cytopenias, recurrent infections, and a desquamative rash. These findings prompted evaluation for an inborn error of immunity. Immunological studies showed absent FOXP3 expression, and genetic testing identified a hemizygous pathogenic FOXP3 variant (c.1076C>T), confirming IPEX syndrome. Corticosteroids and sirolimus were started, and he was referred for hematopoietic stem cell transplantation.
What made this case unusual
The report describes neonatal-onset IPEX in Portugal, which the authors identify as the first such case reported there.
Diagnostic / clinical pearl
In an infant with early-onset autoimmunity alongside infections or other signs of immunodeficiency, consider IPEX; absent FOXP3 expression and pathogenic FOXP3 testing can establish the diagnosis.