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 from a 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 days old...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2019-08-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/737 |
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| author | Dilek Doğruel Fatih Gürbüz İhsan Turan Derya Ufuk Altıntaş Mustafa Yılmaz Bilgin Yüksel |
| author_facet | Dilek Doğruel Fatih Gürbüz İhsan Turan Derya Ufuk Altıntaş Mustafa Yılmaz Bilgin Yüksel |
| author_sort | Dilek Doğruel |
| collection | DOAJ |
| description |
Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder that causes systemic autoimmunity resulting from a 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 days old. On physical examination the patient was severely dehydrated, and his laboratory test results showed hyperglycemia and metabolic acidosis. Upon the continuance of the hyperglycemia which caused the patient to receive permanent insulin treatment, the patient was diagnosed with neonatal diabetes mellitus. Here, we report a 2-year-old boy with early-onset IPEX syndrome due to a c.1040G > A (p.R347H) mutation in exon 11 of the FOXP3 gene. Although the patient had missense mutation in his FOXP3 gene, he did not have other immunodysregulation symptoms. IPEX syndrome should be kept in mind in all the cases of associated neonatal diabetes mellitus in male neonates or infants.
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| format | Article |
| id | doaj-art-8e28defea62b4df0b00af84a474339a2 |
| institution | DOAJ |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2019-08-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-8e28defea62b4df0b00af84a474339a22025-08-20T02:55:21ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212019-08-0161410.24953/turkjped.2019.04.015Unusual and early onset IPEX syndrome: a case reportDilek Doğruel0Fatih Gürbüz1İhsan Turan2Derya Ufuk Altıntaş3Mustafa Yılmaz4Bilgin Yüksel5Departments of Pediatric Allergy and Immunology Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Endocrinology Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Endocrinology Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Allergy and Immunology Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Allergy and Immunology Çukurova University Faculty of Medicine, Adana, Turkey.Departments of Pediatric Endocrinology Çukurova University Faculty of Medicine, Adana, Turkey. Immune dysregulation, polyendocrinopathy, enteropathy, X-linked (IPEX) syndrome is a rare disorder that causes systemic autoimmunity resulting from a 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 days old. On physical examination the patient was severely dehydrated, and his laboratory test results showed hyperglycemia and metabolic acidosis. Upon the continuance of the hyperglycemia which caused the patient to receive permanent insulin treatment, the patient was diagnosed with neonatal diabetes mellitus. Here, we report a 2-year-old boy with early-onset IPEX syndrome due to a c.1040G > A (p.R347H) mutation in exon 11 of the FOXP3 gene. Although the patient had missense mutation in his FOXP3 gene, he did not have other immunodysregulation symptoms. IPEX syndrome should be kept in mind in all the cases of associated neonatal diabetes mellitus in male neonates or infants. https://turkjpediatr.org/article/view/737FOXP3 mutationIPEX syndromeneonatal diabetes mellitus |
| spellingShingle | Dilek Doğruel Fatih Gürbüz İhsan Turan Derya Ufuk Altıntaş Mustafa Yılmaz Bilgin Yüksel Unusual and early onset IPEX syndrome: a case report The Turkish Journal of Pediatrics FOXP3 mutation IPEX syndrome neonatal diabetes mellitus |
| title | Unusual and early onset IPEX syndrome: a case report |
| title_full | Unusual and early onset IPEX syndrome: a case report |
| title_fullStr | Unusual and early onset IPEX syndrome: a case report |
| title_full_unstemmed | Unusual and early onset IPEX syndrome: a case report |
| title_short | Unusual and early onset IPEX syndrome: a case report |
| title_sort | unusual and early onset ipex syndrome a case report |
| topic | FOXP3 mutation IPEX syndrome neonatal diabetes mellitus |
| url | https://turkjpediatr.org/article/view/737 |
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