IPEX syndrome: Case report
INTRODUCTION IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOX...
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| Format: | Article |
| Language: | English |
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Serbian Medical Society
2008-01-01
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| Series: | Srpski Arhiv za Celokupno Lekarstvo |
| Subjects: | |
| Online Access: | http://www.doiserbia.nb.rs/img/doi/0370-8179/2008/0370-81790810538R.pdf |
| _version_ | 1811190285835698176 |
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| author | Radlović Nedeljko Janić Dragana Sajić Silvija Janković Srđa Ješić Maja Leković Zoran Petrović Rada |
| author_facet | Radlović Nedeljko Janić Dragana Sajić Silvija Janković Srđa Ješić Maja Leković Zoran Petrović Rada |
| author_sort | Radlović Nedeljko |
| collection | DOAJ |
| description | INTRODUCTION IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue. CASE OUTLINE We present a male infant with classic clinical features of IPEX syndrome, which manifested by the end of the first month after birth, first with type 1 diabetes mellitus and chronic diarrhoea followed by dehydration and disordered development, and then with facial eczema and laboratory signs of thyroiditis without thyroid dysfunction (antithyreoglobulin antibodies 1:5500, antimicrosomal antibodies 1:40). In addition, plasma IgE level was high (517 IU/l), while antibodies to tissue transglutaminase were mildly increased (IgA 7.5 U/ml), and anti-smooth muscle and anti-DNA antibodies were absent. Based on the typical clinical features, as well as the laboratory findings, IPEX syndrome was diagnosed, which was further confirmed by proved IVS7+5G>A mutations in the FOXP3 gene. Therapy with insulin and Pronison, combined with parenteral and semielementary nutrition resulted in the patient's clinical improvement. At the age of 9 months, despite Pronison and hypoallergenic nutrition, the child had a relapse of severe and persistent diarrhoeal disorder followed by dehydration, weight loss and deterioration of general condition. Beside the complete parenteral nutrition, as well as other measures, azathioprine was introduced into the treatment, but without the desired effect. At the age of 12.5 months, due to bacteraemia and disseminated intravascular coagulation as complications, the patient ended lethally. CONCLUSION IPEX syndrome should be kept in mind in all the cases of associated type 1 diabetes mellitus and chronic diarrhoea in male neonates or infants. Although treatment results have still been modest, it is quite certain they will be far better in the near future. |
| first_indexed | 2024-04-11T14:48:49Z |
| format | Article |
| id | doaj.art-fb597fedf0ed42acb4e8c74bb6845b77 |
| institution | Directory Open Access Journal |
| issn | 0370-8179 |
| language | English |
| last_indexed | 2024-04-11T14:48:49Z |
| publishDate | 2008-01-01 |
| publisher | Serbian Medical Society |
| record_format | Article |
| series | Srpski Arhiv za Celokupno Lekarstvo |
| spelling | doaj.art-fb597fedf0ed42acb4e8c74bb6845b772022-12-22T04:17:33ZengSerbian Medical SocietySrpski Arhiv za Celokupno Lekarstvo0370-81792008-01-011369-1053854110.2298/SARH0810538RIPEX syndrome: Case reportRadlović NedeljkoJanić DraganaSajić SilvijaJanković SrđaJešić MajaLeković ZoranPetrović RadaINTRODUCTION IPEX syndrome, namely, a hereditary (X-linked) immunodysregulation with autoimmune polyendocrinopathy and enteropathy, as the basic manifestations, presents a rare and exceptionally severe disease. It develops due to gene mutation responsible for the synthesis of a specific protein (FOXP3), which, by differentiation and activation of regular T-lymphocytic CD4+CD25+, has the key role in the induction and maintenance of the peripheral tolerance of one's own tissue. CASE OUTLINE We present a male infant with classic clinical features of IPEX syndrome, which manifested by the end of the first month after birth, first with type 1 diabetes mellitus and chronic diarrhoea followed by dehydration and disordered development, and then with facial eczema and laboratory signs of thyroiditis without thyroid dysfunction (antithyreoglobulin antibodies 1:5500, antimicrosomal antibodies 1:40). In addition, plasma IgE level was high (517 IU/l), while antibodies to tissue transglutaminase were mildly increased (IgA 7.5 U/ml), and anti-smooth muscle and anti-DNA antibodies were absent. Based on the typical clinical features, as well as the laboratory findings, IPEX syndrome was diagnosed, which was further confirmed by proved IVS7+5G>A mutations in the FOXP3 gene. Therapy with insulin and Pronison, combined with parenteral and semielementary nutrition resulted in the patient's clinical improvement. At the age of 9 months, despite Pronison and hypoallergenic nutrition, the child had a relapse of severe and persistent diarrhoeal disorder followed by dehydration, weight loss and deterioration of general condition. Beside the complete parenteral nutrition, as well as other measures, azathioprine was introduced into the treatment, but without the desired effect. At the age of 12.5 months, due to bacteraemia and disseminated intravascular coagulation as complications, the patient ended lethally. CONCLUSION IPEX syndrome should be kept in mind in all the cases of associated type 1 diabetes mellitus and chronic diarrhoea in male neonates or infants. Although treatment results have still been modest, it is quite certain they will be far better in the near future.http://www.doiserbia.nb.rs/img/doi/0370-8179/2008/0370-81790810538R.pdfIPEX syndromeFOXP3children |
| spellingShingle | Radlović Nedeljko Janić Dragana Sajić Silvija Janković Srđa Ješić Maja Leković Zoran Petrović Rada IPEX syndrome: Case report Srpski Arhiv za Celokupno Lekarstvo IPEX syndrome FOXP3 children |
| title | IPEX syndrome: Case report |
| title_full | IPEX syndrome: Case report |
| title_fullStr | IPEX syndrome: Case report |
| title_full_unstemmed | IPEX syndrome: Case report |
| title_short | IPEX syndrome: Case report |
| title_sort | ipex syndrome case report |
| topic | IPEX syndrome FOXP3 children |
| url | http://www.doiserbia.nb.rs/img/doi/0370-8179/2008/0370-81790810538R.pdf |
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