DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection
Creators
- 1. Hacettepe Univ, Dept Pediat, Fac Med, Ankara, Turkiye
- 2. Middle East Tech Univ, Dept Biol Sci, Ankara, Turkiye
- 3. Hacettepe Univ, Dept Pediat Endocrinol, Fac Med, Ankara, Turkiye
- 4. Hacettepe Univ, Dept Pediat Immunol, Fac Med, Ankara, Turkiye
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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Files
(276 Bytes)
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