DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection

• الحاوية / القاعدة: The Turkish Journal of Pediatrics
• المؤلفون الرئيسيون: Ayşe Mete Yeşil, Başak Kayaoğlu, Ersin Gül, Nazlı Gönç, Alev Özön, İlhan Tezcan, Mayda Gürsel, Deniz Çağdaş
• التنسيق: مقال
• اللغة: الإنجليزية
• منشور في: Hacettepe University Institute of Child Health 2023-06-01
• الموضوعات: dedicator of cytokinesis (DOCK8) deficiency; interferon response; syndrome of inappropriate antidiuretic hormone secretion (SIADH)
• الوصول للمادة أونلاين: https://turkjpediatr.org/article/view/60
• تدمد: 0041-4301; 2791-6421

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.