Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

M, Côte; MM, Ménager; A, Burgess; N, Mahlaoui; C, Picard; C, Schaffner; F, Al-Manjomi; M, Al-Harbi; A, Alangari; Deist F, Le; AR, Gennery; N, Prince; A, Cariou; P, Nitschke; U, Blank; G, El-Ghazali; G, Ménasché; S, Latour; A, Fischer; Saint Basile G, de

doi:10.1172/jci40732

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Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.

Shared by NobleBlocks on Nov 2, 2009 • 12:00 AM UTC

Authors:

Côte M

Ménager MM

Burgess A

Abstract

Familial hemophagocytic lymphohistiocytosis (FHL) is a genetically heterogeneous autosomal recessive immune disorder characterized by the occurrence of uncontrolled activation of lymphocytes and macrophages infiltrating multiple organs. Disease-causing mutations in the perforin (PRF1; also known as ...

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