extl3相关免疫骨骼发育不良伴神经发育异常:一种致死性表型。

IF 1.1 4区医学 Q4 ALLERGY Pediatric Allergy Immunology and Pulmonology Pub Date : 2023-12-01 Epub Date: 2023-11-20 DOI:10.1089/ped.2023.0079

Engin Demir, Filiz Adım, Mehmet Ercüment Döğen, Ayşe Aydoğdu, Edanur Yeşil, Serdar Mermer, Burak Başer, Gizem Ürel Demir

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引用次数: 0

摘要

背景:由外生激素样糖基转移酶3 (EXTL3)双等位基因突变引起的免疫骨骼发育不良伴神经发育异常(ISDNA)是一种非常罕见的综合征，文献中仅报道了16例。骨骼发育不良、神经发育迟缓、免疫缺陷、肝脏和肾脏囊肿是该综合征最常见的表现。病例介绍:在这里，我们报告了一位患者，他表现出具有该综合征临床特征的致命表型，并且在EXTL3基因中具有纯合子致病性突变。结论:在神经-免疫-骨骼发育不良表型患者的鉴别诊断中应牢记ISDNA。

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EXTL3-Associated Immunoskeletal Dysplasia with Neurodevelopmental Abnormalities: A Lethal Phenotype.

Background: Immunoskeletal dysplasia with neurodevelopmental abnormalities (ISDNA) caused by Exostosin-Like Glycosyltransferase 3 (EXTL3) biallelic mutations is a very rare syndrome with only 16 cases reported in the literature. Skeletal dysplasia, neurodevelopmental delay, immunodeficiency, liver, and kidney cysts are the most common findings of this syndrome. Case Presentation: Here, we report on a patient who exhibited a lethal phenotype with clinical characteristics of this syndrome and had a homozygous pathogenic mutation in EXTL3 gene. Conclusions: ISDNA should be kept in mind in the differential diagnosis of patients presenting with neuro-immuno-skeletal dysplasia phenotype.

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来源期刊

Pediatric Allergy Immunology and Pulmonology ALLERGY-IMMUNOLOGY

CiteScore

2.00

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Pediatric Allergy, Immunology, and Pulmonology is a peer-reviewed journal designed to promote understanding and advance the treatment of respiratory, allergic, and immunologic diseases in children. The Journal delivers original translational, clinical, and epidemiologic research on the most common chronic illnesses of children—asthma and allergies—as well as many less common and rare diseases. It emphasizes the developmental implications of the morphological, physiological, pharmacological, and sociological components of these problems, as well as the impact of disease processes on families. Pediatric Allergy, Immunology, and Pulmonology coverage includes: -Functional and genetic immune deficiencies- Interstitial lung diseases- Both common and rare respiratory, allergic, and immunologic diseases- Patient care- Patient education research- Public health policy- International health studies