DOCK8缺乏伴嗜酸性粒细胞增多及疱疹感染时抗利尿激素分泌不当综合征。

IF 0.8 4区医学 Q4 PEDIATRICS

Turkish Journal of Pediatrics Pub Date : 2023-01-01 DOI:10.24953/turkjped.2020.1934

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

摘要

背景:高免疫球蛋白E综合征(HIES)是由细胞动力学献身体8 (DOCK8)缺乏引起的，可能出现在婴儿期和儿童期，具有不同的临床特征，包括反复感染、过敏调节失调和自身免疫。病例:在本报告中，我们描述了一位患者，他最初表现为严重嗜酸性粒细胞增多症，并在严重疱疹感染的情况下发展为不适当的抗利尿激素分泌综合征(SIADH)。调查显示存在潜在的DOCK8缺陷，表现出不典型的临床特征。结论:在原发性免疫缺陷疾病的病程中可能出现与感染相关的明显炎症特征，早期的功能和分子基因检测将有助于适当的治疗。

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

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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来源期刊

Turkish Journal of Pediatrics 医学-小儿科

CiteScore

1.40

自引率

0.00%

发文量

122

审稿时长

6-12 weeks

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.