Ayşe Mete Yeşil, Başak Kayaoğlu, Ersin Gül, Nazlı Gönç, Alev Özön, İlhan Tezcan, Mayda Gürsel, Deniz Çağdaş
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引用次数: 0
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.
期刊介绍：
The Turkish Journal of Pediatrics is a multidisciplinary, peer reviewed, open access journal that seeks to publish research to advance the field of Pediatrics. The Journal publishes original articles, case reports, review of the literature, short communications, clinicopathological exercises and letter to the editor in the field of pediatrics. Articles published in this journal are evaluated in an independent and unbiased, double blinded peer-reviewed fashion by an advisory committee.
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