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

Turk J Pediatr. 2023;65(3):536-541. doi: 10.24953/turkjped.2020.1934.

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.

Keywords: dedicator of cytokinesis (DOCK8) deficiency; interferon response; syndrome of inappropriate antidiuretic hormone secretion (SIADH).

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Child
  • Eosinophilia*
  • Guanine Nucleotide Exchange Factors / genetics
  • Humans
  • Hypersensitivity* / complications
  • Inappropriate ADH Syndrome* / complications
  • Inappropriate ADH Syndrome* / diagnosis
  • Inappropriate ADH Syndrome* / genetics
  • Infant
  • Job Syndrome* / complications
  • Job Syndrome* / diagnosis
  • Job Syndrome* / genetics
  • Vasopressins

Substances

  • DOCK8 protein, human
  • Guanine Nucleotide Exchange Factors
  • Vasopressins