以暴发性家族性噬血细胞性淋巴组织细胞增生症为表现的UNC13D突变 - Suppr

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UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.

作者信息

Liao Chun-Hua, Lee Ni-Chung, Jou Shiann-Tarng, Chiang Bor-Luen, Yu Hsin-Hui

机构信息

Department of Pediatrics, National Taiwan University Children's Hospital, Taipei, Taiwan.

Department of Medical Genetics, National Taiwan University Hospital, Taipei, Taiwan.

出版信息

J Microbiol Immunol Infect. 2020 Dec;53(6):1039-1041. doi: 10.1016/j.jmii.2020.04.001. Epub 2020 Apr 11.

DOI:10.1016/j.jmii.2020.04.001

PMID:32327331

Abstract

摘要

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UNC13D mutation presenting as fulminant familial hemophagocytic lymphohistiocytosis.以暴发性家族性噬血细胞性淋巴组织细胞增生症为表现的UNC13D突变

J Microbiol Immunol Infect. 2020 Dec;53(6):1039-1041. doi: 10.1016/j.jmii.2020.04.001. Epub 2020 Apr 11.

UNC13D is the predominant causative gene with recurrent splicing mutations in Korean patients with familial hemophagocytic lymphohistiocytosis.UNC13D 是韩国家族性噬血细胞性淋巴组织细胞增生症患者中主要的致病基因，存在反复出现的剪接突变。

Haematologica. 2010 Apr;95(4):622-6. doi: 10.3324/haematol.2009.016949. Epub 2009 Dec 16.

Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3.鉴定一位家族性噬血细胞性淋巴组织细胞增生症 3 型患者的 UNC13D 基因大片段重复。

Clin Immunol. 2018 Jun;191:63-66. doi: 10.1016/j.clim.2018.03.012. Epub 2018 Mar 26.

Novel and atypical splicing mutation in a compound heterozygous UNC13D defect presenting in Familial Hemophagocytic Lymphohistiocytosis triggered by EBV infection.UNC13D 复合杂合缺陷中新型和非典型剪接突变导致 EBV 感染触发家族性噬血细胞性淋巴组织细胞增生症。

Clin Immunol. 2014 Aug;153(2):292-7. doi: 10.1016/j.clim.2014.04.019. Epub 2014 May 10.

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.3型家族性噬血细胞性淋巴组织细胞增生症中的新型深度内含子和错义UNC13D突变

Br J Haematol. 2013 Aug;162(3):415-8. doi: 10.1111/bjh.12371. Epub 2013 May 14.

Familial hemophagocytic lymphohistiocytosis type 3 (FHL3) caused by deep intronic mutation and inversion in UNC13D.家族性噬血细胞性淋巴组织细胞增生症 3 型（FHL3）由 UNC13D 中的深内含子突变和倒位引起。

Blood. 2011 Nov 24;118(22):5783-93. doi: 10.1182/blood-2011-07-369090. Epub 2011 Sep 19.

Mutations affecting mRNA splicing are the most common molecular defect in patients with familial hemophagocytic lymphohistiocytosis type 3.影响mRNA剪接的突变是3型家族性噬血细胞性淋巴组织细胞增生症患者中最常见的分子缺陷。

Haematologica. 2008 Jul;93(7):1086-90. doi: 10.3324/haematol.12622. Epub 2008 May 19.

Founder effects in two predominant intronic mutations of UNC13D, c.118-308C>T and c.754-1G>C underlie the unusual predominance of type 3 familial hemophagocytic lymphohistiocytosis (FHL3) in Korea.UNC13D 的两个主要内含子突变 c.118-308C>T 和 c.754-1G>C 的 founder 效应是韩国 3 型家族性噬血细胞性淋巴组织细胞增生症（FHL3）异常高发的基础。

Ann Hematol. 2013 Mar;92(3):357-64. doi: 10.1007/s00277-012-1628-6. Epub 2012 Nov 24.

The 253-kb inversion and deep intronic mutations in UNC13D are present in North American patients with familial hemophagocytic lymphohistiocytosis 3.UNC13D 中的 253-kb 倒位和深内含子突变存在于患有家族性噬血细胞性淋巴组织细胞增生症 3 的北美患者中。

Pediatr Blood Cancer. 2014 Jun;61(6):1034-40. doi: 10.1002/pbc.24955. Epub 2014 Jan 28.

Alternative Promoter Encodes a Functional Munc13-4 Isoform Predominantly Expressed in Lymphocytes and Platelets.替代启动子编码一种功能性 Munc13-4 异构体，主要在淋巴细胞和血小板中表达。

Front Immunol. 2020 Jun 9;11:1154. doi: 10.3389/fimmu.2020.01154. eCollection 2020.

引用本文的文献

Etiologies and long-term outcome of pediatric hemophagocytic lymphohistiocytosis and macrophage activation syndrome in Taiwan: a single-center retrospective study.台湾儿童噬血细胞性淋巴组织细胞增生症和巨噬细胞活化综合征的病因及长期预后：一项单中心回顾性研究

Front Immunol. 2025 Jul 9;16:1596113. doi: 10.3389/fimmu.2025.1596113. eCollection 2025.

Familial Hemophagocytic Lymphohistiocytosis secondary to UNC13D mutation: a report of two cases.UNC13D 基因突变继发家族性噬血细胞性淋巴组织细胞增生症 2 例报告

BMC Pediatr. 2022 Nov 19;22(1):667. doi: 10.1186/s12887-022-03746-9.

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