A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease | Zendy

Bayarchimeg Mashbat | Zendy; Evangelos Bellos | Zendy; Stephanie Hodeib | Zendy; Fadil A. Bidmos | Zendy; Ryan S. Thwaites | Zendy; Yaxuan Lu | Zendy; Victoria Wright | Zendy; Jethro Herberg | Zendy; Daniela Klobassa | Zendy; William G. Walton | Zendy; Werner Zenz | Zendy; Trevor T. Hansel | Zendy; Simon Nadel | Zendy; Paul R. Langford | Zendy; Luregn J. Schlapbach | Zendy; Mingshi Li | Zendy; Matthew R. Redinbo | Zendy; Y. Peter Di | Zendy; Michael Levin | Zendy; Vanessa SanchoShimizu | Zendy

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A Rare Mutation in SPLUNC1 Affects Bacterial Adherence and Invasion in Meningococcal Disease

Author(s) -

Bayarchimeg Mashbat,

Evangelos Bellos,

Stephanie Hodeib,

Fadil A. Bidmos,

Ryan S. Thwaites,

Yaxuan Lu,

Victoria Wright,

Jethro Herberg,

Daniela Klobassa,

William G. Walton,

Werner Zenz,

Trevor T. Hansel,

Simon Nadel,

Paul R. Langford,

Luregn J. Schlapbach,

Mingshi Li,

Matthew R. Redinbo,

Y. Peter Di,

Michael Levin,

Vanessa SanchoShimizu

Publication year - 2019

Publication title -

clinical infectious diseases

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.44

H-Index - 336

eISSN - 1537-6591

pISSN - 1058-4838

DOI - 10.1093/cid/ciz600

Subject(s) - neisseria meningitidis , meningococcal disease , exome sequencing , missense mutation , mutation , immunology , microbiology and biotechnology , biology , medicine , genetics , gene , bacteria

Neisseria meningitidis (Nm) is a nasopharyngeal commensal carried by healthy individuals. However, invasive infections occurs in a minority of individuals, with devastating consequences. There is evidence that common polymorphisms are associated with invasive meningococcal disease (IMD), but the contributions of rare variants other than those in the complement system have not been determined.

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