Dilek DOĞRUEL, Fatih GÜRBÜZ, İhsan TURAN, Derya Ufuk ALTINTAŞ, Mustafa YILMAZ, Bilgin YÜKSEL

Unusual and early onset IPEX syndrome: a case report

Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX)syndrome is a rare disorder that causes systemic autoimmunity resulting froma mutation of the forkhead box protein 3 gene (FOXP3). A 2-year-old boy,was referred to the hospital due to vomiting and fever when he was 21 daysold. On physical examination the patient was severely dehydrated, and hislaboratory test results showed hyperglycemia and metabolic acidosis. Uponthe continuance of the hyperglycemia which caused the patient to receivepermanent insulin treatment, the patient was diagnosed with neonataldiabetes mellitus. Here, we report a 2-year-old boy with early-onset IPEXsyndrome due to a c.1040G > A (p.R347H) mutation in exon 11 of the FOXP3gene. Although the patient had missense mutation in his FOXP3 gene, he didnot have other immunodysregulation symptoms. IPEX syndrome should bekept in mind in all the cases of associated neonatal diabetes mellitus in maleneonates or infants.

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