DOCK8 deficiency with hypereosinophilia and the syndrome of inappropriate antidiuretic hormone secretion during herpes infection.
Turk J Pediatr
; 65(3): 536-541, 2023.
Article
em En
| MEDLINE
| ID: mdl-37395973
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.Palavras-chave
Texto completo:
1
Coleções:
01-internacional
Base de dados:
MEDLINE
Assunto principal:
Eosinofilia
/
Hipersensibilidade
/
Síndrome de Secreção Inadequada de HAD
/
Síndrome de Job
Tipo de estudo:
Diagnostic_studies
Limite:
Child
/
Humans
/
Infant
Idioma:
En
Revista:
Turk J Pediatr
Ano de publicação:
2023
Tipo de documento:
Article