A Congenital Neutrophil Defect Syndrome Associated with Mutations inVPS45
Author(s) -
Thierry Vilboux,
Atar Lev,
May Christine V. Malicdan,
Amos J. Simon,
Päivi Järvinen,
Tomáš Raček,
Jacek Puchałka,
Raman Sood,
Blake Carrington,
Kevin Bishop,
James C. Mullikin,
Marjan Huizing,
Ben Zion Garty,
Eran Eyal,
Baruch Wolach,
Ronit Gavrieli,
Amos Toren,
Michalle Soudack,
Osama Atawneh,
T. Babushkin,
Ginette Schiby,
Andrew R. Cullinane,
Camila Avivi,
Sylvie PolakCharcon,
Iris Barshack,
Ninette Amariglio,
Gideon Rechavi,
Jutte van der Werff ten Bosch,
Yair Anikster,
Christoph Klein,
William A. Gahl,
Raz Somech
Publication year - 2013
Publication title -
new england journal of medicine
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 19.889
H-Index - 1030
eISSN - 1533-4406
pISSN - 0028-4793
DOI - 10.1056/nejmoa1301296
Subject(s) - medicine , mutation , genetics , gene , biology
Neutrophils are the predominant phagocytes that provide protection against bacterial and fungal infections. Genetically determined neutrophil disorders confer a predisposition to severe infections and reveal novel mechanisms that control vesicular trafficking, hematopoiesis, and innate immunity.
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