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 - Suppr

Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

作者信息

Entesarian Miriam, Chiang Samuel C C, Schlums Heinrich, Meeths Marie, Chan Mei-Yoke, Mya Soe-Nwe, Soh Shui-Yen, Nordenskjöld Magnus, Henter Jan-Inge, Bryceson Yenan T

出版信息

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

DOI:10.1111/bjh.12371

PMID:23672263

Abstract

摘要

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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.

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。

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Spectrum, and clinical and functional implications of UNC13D mutations in familial haemophagocytic lymphohistiocytosis.家族性噬血细胞性淋巴组织细胞增生症中UNC13D突变的谱系、临床及功能意义

J Med Genet. 2008 Mar;45(3):134-41. doi: 10.1136/jmg.2007.054288. Epub 2007 Nov 9.

Clinical and Genetic Analysis of Nine Suspected Familial Haemophagocytic Lymphohistiocytosis Patients for MUNC13-4 Deficiency and Introducing Four Novel Mutations in UNC13D.9例疑似家族性噬血细胞性淋巴组织细胞增生症患者MUNC13-4缺陷的临床及遗传学分析并介绍UNC13D中的4种新突变

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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。

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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。

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J Immunol Methods. 2011 Feb 28;365(1-2):58-66. doi: 10.1016/j.jim.2010.12.009. Epub 2010 Dec 21.

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.

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.

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

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Novel deep intronic and missense UNC13D mutations in familial haemophagocytic lymphohistiocytosis type 3.

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