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

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Yeşil A. M., KAYAOĞLU B., Gül E., Gönç N., Özön A., Tezcan İ., ...More

Turkish Journal of Pediatrics, vol.65, no.3, pp.536-541, 2023 (SCI-Expanded) identifier identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 65 Issue: 3
  • Publication Date: 2023
  • Doi Number: 10.24953/turkjped.2020.1934
  • Journal Name: Turkish Journal of Pediatrics
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus, CAB Abstracts, EMBASE, MEDLINE, Veterinary Science Database, TR DİZİN (ULAKBİM)
  • Page Numbers: pp.536-541
  • Keywords: dedicator of cytokinesis (DOCK8) deficiency, interferon response, syndrome of inappropriate antidiuretic hormone secretion (SIADH)
  • Middle East Technical University Affiliated: Yes

Abstract

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.