ESPE Abstracts (2018) 89 P-P3-099

Case Report: De Novo Mutation of Foxp3 Causing Mild Phenotype of Immunodysregulation, Polyendocrinopathy, Enteropathy, X-Link Syndrome

Hoang Thi Diem Thuy & Nguyen Khoa Binh Minh


Children’s Hospital 2, Ho Chi Minh City, Vietnam


Immune dysregulation-polyendocrinopathy-enteropathy-X-linked syndrome (IPEX) is caused by mutations in the gene that encode for the transcription factor FOXP3. IPEX is a rare, often fatal disease. However, several cases present later onset, mild forms or less common clinical manifestations. We report a case who had de novo mutation of FOXP3 causing neonatal diabetes but without other features of IPEX syndrome. An 8 days old male, late preterm at 36 weeks, low birthweight 2200gr, hospitalization for diabetic ketoacidosis and sepsis. After diabetes, he had mild dermatitis. There was no significant family medical history. He was treated with actrapid/insulatard and eosin 2%. The DNA analysis at the University of Exeter Medical School found mutation at exon 12 of FOXP3 gene c.1190G>A, p.(Arg397Gln). The FOXP3 missense variant p.(Arg397Gln) was not detected in his mother’s DNA sample. IgE level were high. Autoimmune antibodies were negative except anti-RNP positive.

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