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病例报告:新生儿有症状的慢性肉芽肿病。

Case Report: Symptomatic Chronic Granulomatous Disease in the Newborn.

机构信息

Hospital for Children and Adolescents, University Hospital of Frankfurt, Frankfurt, Germany.

Institute of Pathology, University Hospital of Frankfurt, Frankfurt, Germany.

出版信息

Front Immunol. 2021 Mar 29;12:663883. doi: 10.3389/fimmu.2021.663883. eCollection 2021.

Abstract

Chronic granulomatous disease (CGD) is a primary immunodeficiency, which is diagnosed in most patients between one and three years of age. Here we report on a boy who presented at birth with extensive skin lesions and lymphadenopathy which were caused by CGD. An analysis of the literature revealed 24 patients with CGD who became symptomatic during the first six weeks of life. Although pulmonary complications and skin lesions due to infection were the leading symptoms, clinical features were extremely heterogenous. As follow-up was not well specified in most patients, the long-term prognosis of children with very early onset of CGD remains unknown.

摘要

慢性肉芽肿病(CGD)是一种原发性免疫缺陷病,大多数患者在 1 至 3 岁之间被诊断出来。在此,我们报告了一名男孩,他出生时即出现广泛的皮肤损伤和淋巴结病,这些损伤和淋巴结病是由 CGD 引起的。对文献的分析显示,有 24 名 CGD 患者在生命的前 6 周出现症状。尽管肺部并发症和感染引起的皮肤损伤是主要症状,但临床表现极其多样。由于大多数患者的随访情况没有明确说明,因此患有非常早发性 CGD 的儿童的长期预后仍然未知。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/bd5f/8039294/972b49b3630d/fimmu-12-663883-g001.jpg

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