An N-Terminal Missense Mutation in STX11 Causative of FHL4 Abrogates Syntaxin-11 Binding to Munc18-2

Familial hemophagocytic lymphohistiocytosis (FHL) is an often-fatal hyperinflammatory disorder caused by autosomal recessive mutations in PRF1, UNC13D, STX11, and STXBP2. We identified a homozygous STX11 mutation, c.173T > C (p.L58P), in three patients presenting clinically with hemophagocytic ly...

詳細記述

保存先:
書誌詳細
主要な著者: Müller, Martha-Lena, Chiang, Samuel C. C., Meeths, Marie, Tesi, Bianca, Entesarian, Miriam, Nilsson, Daniel, Wood, Stephanie M., Nordenskjöld, Magnus, Henter, Jan-Inge, Naqvi, Ahmed, Bryceson, Yenan T.
フォーマット: Artigo
言語:Inglês
出版事項: Frontiers Media S.A. 2014
主題:
Immunology
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC3890652/
https://ncbi.nlm.nih.gov/pubmed/24459464
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3389/fimmu.2013.00515
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