一个中国家庭的两兄弟患常染色体隐性高IgE综合征，DOCK8基因存在新突变。 - Suppr

Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene.

作者信息

Wang S, Mou W, Xu Z, Gui J, Ma L

机构信息

Department of Dermatology, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

Laboratory of Immunology, Beijing Pediatric Research Institute, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.

出版信息

J Eur Acad Dermatol Venereol. 2018 Aug;32(8):e302-e304. doi: 10.1111/jdv.14847. Epub 2018 Mar 13.

DOI:10.1111/jdv.14847

PMID:29419892

Abstract

摘要

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Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene.一个中国家庭的两兄弟患常染色体隐性高IgE综合征，DOCK8基因存在新突变。

J Eur Acad Dermatol Venereol. 2018 Aug;32(8):e302-e304. doi: 10.1111/jdv.14847. Epub 2018 Mar 13.

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.常染色体隐性遗传形式的高免疫球蛋白 E 综合征中涉及胞质分裂因子 8 (DOCK8)的大片段缺失和点突变。

J Allergy Clin Immunol. 2009 Dec;124(6):1289-302.e4. doi: 10.1016/j.jaci.2009.10.038.

A novel large deletion of the DOCK8 gene in a Chinese family with autosomal-recessive hyper-IgE syndrome.一个患有常染色体隐性高免疫球蛋白E综合征的中国家庭中DOCK8基因的新型大片段缺失。

J Eur Acad Dermatol Venereol. 2015 Mar;29(3):599-601. doi: 10.1111/jdv.12394. Epub 2014 Feb 17.

Novel DOCK8 gene mutations lead to absence of protein expression in patients with hyper-IgE syndrome.新型DOCK8基因突变导致高IgE综合征患者蛋白质表达缺失。

Immunol Res. 2016 Feb;64(1):260-71. doi: 10.1007/s12026-015-8745-y.

Deficient T Cell Receptor Excision Circles (TRECs) in autosomal recessive hyper IgE syndrome caused by DOCK8 mutation: implications for pathogenesis and potential detection by newborn screening.常染色体隐性遗传高免疫球蛋白 E 综合征中 DOCK8 突变导致的 T 细胞受体缺失环（TRECs）减少：对发病机制的影响及通过新生儿筛查进行潜在检测的意义。

Clin Immunol. 2011 Nov;141(2):128-32. doi: 10.1016/j.clim.2011.06.003. Epub 2011 Jun 21.

[Severe atopy and allergy--rare hyper-IgE syndrome caused by the DOCK8 mutation as underlying condition].[严重特应性和过敏——由DOCK8突变作为潜在病因引起的罕见高IgE综合征]

Duodecim. 2015;131(6):541-4.

DOCK8 Mutation Syndrome: A Diagnostic Challenge for Dermatologists.DOCK8突变综合征：皮肤科医生面临的诊断挑战。

Acta Derm Venereol. 2016 Nov 2;96(7):991-992. doi: 10.2340/00015555-2288.

[Hyper-IgE syndromes].[高免疫球蛋白E综合征]

Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi. 2017 Jun 5;31(11):892-896. doi: 10.13201/j.issn.1001-1781.2017.11.019.

A novel hemizygous CD40L mutation of X-linked hyper IgM syndromes and compound heterozygous DOCK8 mutations of hyper IgE syndromes in two Chinese families.两个中国家系中 X 连锁高免疫球蛋白 M 综合征的新型 CD40L 半合突变和高免疫球蛋白 E 综合征的 DOCK8 复合杂合突变。

Immunogenetics. 2024 Jun;76(3):165-173. doi: 10.1007/s00251-024-01340-0. Epub 2024 Apr 8.

The clinical and laboratory spectrum of dedicator of cytokinesis 8 immunodeficiency syndrome in patients with a unique mutation.具有独特突变的患者中细胞分裂素8缺陷综合征的临床和实验室特征

Immunol Res. 2017 Jun;65(3):651-657. doi: 10.1007/s12026-016-8883-x.

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Monogenic etiologies of persistent human papillomavirus infections: A comprehensive systematic review.单基因病因与持续性人乳头瘤病毒感染：系统综述。

Genet Med. 2024 Feb;26(2):101028. doi: 10.1016/j.gim.2023.101028. Epub 2023 Nov 14.

Autosomal recessive hyper-IgE syndrome caused by DOCK8 gene mutation with new clinical features: a case report.常染色体隐性遗传高免疫球蛋白 E 综合征由 DOCK8 基因突变引起，伴有新的临床特征：一例报告。

BMC Neurol. 2021 Jul 23;21(1):288. doi: 10.1186/s12883-021-02324-3.

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Autosomal recessive hyper-IgE syndrome in two brothers of a Chinese family with a novel mutation in DOCK8 gene.

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