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

Date

2023-01-01

Author

Yeşil, Ayşe Mete
Kayaoğlu, Başak
Gül, Ersin
Gönç, Nazlı
Özön, Alev
Tezcan, İlhan
Gürsel, Mayda
ÇAĞDAŞ AYVAZ, DENİZ NAZİRE

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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.

Subject Keywords

dedicator of cytokinesis (DOCK8) deficiency, interferon response, syndrome of inappropriate antidiuretic hormone secretion (SIADH)

URI

https://hdl.handle.net/11511/104745

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Department of Biology, Article