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...

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Bibliografski detalji
Glavni autori: 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.
Format: Artigo
Jezik:Inglês
Izdano: Frontiers Media S.A. 2014
Teme:
Immunology
Online pristup: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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