Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3

Characterization of a large UNC13D gene duplication in a patient with familial hemophagocytic lymphohistiocytosis type 3

Copyright © 2018 Elsevier Inc. All rights reserved.

Bibliographische Detailangaben
Veröffentlicht in:Clinical immunology (Orlando, Fla.). - 1999. - 191(2018) vom: 15. Juni, Seite 63-66
1. Verfasser: Hiejima, Eitaro (VerfasserIn)
Weitere Verfasser: Shibata, Hirofumi, Yasumi, Takahiro, Shimodera, Saeko, Hori, Masayuki, Izawa, Kazushi, Kawai, Tomoki, Matsuoka, Masaki, Kojima, Yasuko, Ohara, Akira, Nishikomori, Ryuta, Ohara, Osamu, Heike, Toshio
Format: Online-Aufsatz
Sprache:English
Veröffentlicht: 2018
Zugriff auf das übergeordnete Werk:Clinical immunology (Orlando, Fla.)
Schlagworte:Case Reports Journal Article Research Support, Non-U.S. Gov't Alu elements Duplication mutation Familial hemophagocytic lymphohistiocytosis type 3 Genetic recombination UNC13D Membrane Proteins UNC13D protein, human
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520 |a Familial hemophagocytic lymphohistiocytosis (FHL) type 3 is a life-threatening immune dysregulation syndrome caused by mutations in the UNC13D gene, encoding the munc13-4 protein, which is important for function of cytotoxic lymphocytes. FHL3 accounts for 30-40% of FHL cases, and more than 100 mutations in the UNC13D gene have been described to date. We describe the first case of FHL3 carrying an intragenic duplication of UNC13D, apparently mediated by recombination of Alu elements. NK cell degranulation and munc13-4 protein expression assays are useful for early identification of such mutations, which may be missed by analysis of genomic DNA alone 
650 4 |a Case Reports 
650 4 |a Journal Article 
650 4 |a Research Support, Non-U.S. Gov't 
650 4 |a Alu elements 
650 4 |a Duplication mutation 
650 4 |a Familial hemophagocytic lymphohistiocytosis type 3 
650 4 |a Genetic recombination 
650 4 |a UNC13D 
650 7 |a Membrane Proteins  |2 NLM 
650 7 |a UNC13D protein, human  |2 NLM 
700 1 |a Shibata, Hirofumi  |e verfasserin  |4 aut 
700 1 |a Yasumi, Takahiro  |e verfasserin  |4 aut 
700 1 |a Shimodera, Saeko  |e verfasserin  |4 aut 
700 1 |a Hori, Masayuki  |e verfasserin  |4 aut 
700 1 |a Izawa, Kazushi  |e verfasserin  |4 aut 
700 1 |a Kawai, Tomoki  |e verfasserin  |4 aut 
700 1 |a Matsuoka, Masaki  |e verfasserin  |4 aut 
700 1 |a Kojima, Yasuko  |e verfasserin  |4 aut 
700 1 |a Ohara, Akira  |e verfasserin  |4 aut 
700 1 |a Nishikomori, Ryuta  |e verfasserin  |4 aut 
700 1 |a Ohara, Osamu  |e verfasserin  |4 aut 
700 1 |a Heike, Toshio  |e verfasserin  |4 aut 
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