DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection
Background. Hyperimmunoglobulin E syndrome (HIES) due to dedicator of cytokinesis8 (DOCK8) deficiency may present in infancy and childhood with different clinical features involving recurrent infections, allergic dysregulation, and autoimmunity. Case. In this report, we describe a pati...
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| Format: | Article |
| Language: | English |
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Hacettepe University Institute of Child Health
2023-06-01
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| Series: | The Turkish Journal of Pediatrics |
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| Online Access: | https://turkjpediatr.org/article/view/60 |
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| author | Ayşe Mete Yeşil Başak Kayaoğlu Ersin Gül Nazlı Gönç Alev Özön İlhan Tezcan Mayda Gürsel Deniz Çağdaş |
| author_facet | Ayşe Mete Yeşil Başak Kayaoğlu Ersin Gül Nazlı Gönç Alev Özön İlhan Tezcan Mayda Gürsel Deniz Çağdaş |
| author_sort | Ayşe Mete Yeşil |
| collection | DOAJ |
| description |
Background. Hyperimmunoglobulin E syndrome (HIES) due to dedicator of cytokinesis8 (DOCK8) deficiency may present in infancy and childhood with different clinical features involving recurrent infections, allergic dysregulation, and autoimmunity.
Case. In this report, we describe a patient who first presented with severe hypereosinophilia and went on to develop the syndrome of inappropriate antidiuretic hormone secretion (SIADH) in the context of a severe herpes infection. Investigation revealed the presence of underlying DOCK8 deficiency presenting with atypical clinical features.
Conclusions. Distinct inflammatory features associated with infections may be seen in the course of primary immunodeficiency diseases, and early functional and molecular genetic tests will aid the proper management.
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| format | Article |
| id | doaj-art-7d0f8f60f1494271a4b06b7ab21aee7d |
| institution | OA Journals |
| issn | 0041-4301 2791-6421 |
| language | English |
| publishDate | 2023-06-01 |
| publisher | Hacettepe University Institute of Child Health |
| record_format | Article |
| series | The Turkish Journal of Pediatrics |
| spelling | doaj-art-7d0f8f60f1494271a4b06b7ab21aee7d2025-08-20T02:17:53ZengHacettepe University Institute of Child HealthThe Turkish Journal of Pediatrics0041-43012791-64212023-06-0165310.24953/turkjped.2020.1934DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infectionAyşe Mete Yeşil0Başak Kayaoğlu1Ersin Gül2Nazlı Gönç3Alev Özön4İlhan Tezcan5Mayda Gürsel6Deniz Çağdaş7Department of Pediatric, Hacettepe University Faculty of Medicine, Ankara.Department of Biological Sciences, Middle East Technical University, Ankara.Department of Biological Sciences, Middle East Technical University, Ankara.Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.Department of Pediatric Endocrinology, Hacettepe University Faculty of Medicine, Ankara, Türkiye.Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara.Department of Biological Sciences, Middle East Technical University, Ankara.Department of Pediatric Immunology, Hacettepe University Faculty of Medicine, Ankara. Background. Hyperimmunoglobulin E syndrome (HIES) due to dedicator of cytokinesis8 (DOCK8) deficiency may present in infancy and childhood with different clinical features involving recurrent infections, allergic dysregulation, and autoimmunity. Case. In this report, we describe a patient who first presented with severe hypereosinophilia and went on to develop the syndrome of inappropriate antidiuretic hormone secretion (SIADH) in the context of a severe herpes infection. Investigation revealed the presence of underlying DOCK8 deficiency presenting with atypical clinical features. Conclusions. Distinct inflammatory features associated with infections may be seen in the course of primary immunodeficiency diseases, and early functional and molecular genetic tests will aid the proper management. https://turkjpediatr.org/article/view/60dedicator of cytokinesis (DOCK8) deficiencyinterferon responsesyndrome of inappropriate antidiuretic hormone secretion (SIADH) |
| spellingShingle | Ayşe Mete Yeşil Başak Kayaoğlu Ersin Gül Nazlı Gönç Alev Özön İlhan Tezcan Mayda Gürsel Deniz Çağdaş DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection The Turkish Journal of Pediatrics dedicator of cytokinesis (DOCK8) deficiency interferon response syndrome of inappropriate antidiuretic hormone secretion (SIADH) |
| title | DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection |
| title_full | DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection |
| title_fullStr | DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection |
| title_full_unstemmed | DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection |
| title_short | DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection |
| title_sort | dock8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection |
| topic | dedicator of cytokinesis (DOCK8) deficiency interferon response syndrome of inappropriate antidiuretic hormone secretion (SIADH) |
| url | https://turkjpediatr.org/article/view/60 |
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