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Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Feldmann J, Callebaut I, Raposo G, Certain S, Bacq D, Dumont C, Lambert N, Ouachée-Chardin M, Chedeville G, Tamary H, Minard-Colin V, Vilmer E, Blanche S, Le Deist F, Fischer A, de Saint Basile G. Feldmann J, et al. Among authors: le deist f. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.
Feldmann J, Ménasché G, Callebaut I, Minard-Colin V, Bader-Meunier B, Le Clainche L, Fischer A, Le Deist F, Tardieu M, de Saint Basile G. Feldmann J, et al. Among authors: le clainche l, le deist f. Blood. 2005 Apr 1;105(7):2658-63. doi: 10.1182/blood-2004-09-3590. Epub 2004 Dec 14. Blood. 2005. PMID: 15598808 Free article.
CD3 deficiencies.
Fischer A, de Saint Basile G, Le Deist F. Fischer A, et al. Among authors: le deist f. Curr Opin Allergy Clin Immunol. 2005 Dec;5(6):491-5. doi: 10.1097/01.all.0000191886.12645.79. Curr Opin Allergy Clin Immunol. 2005. PMID: 16264327 Review.
Human leucocyte antigen-identical haematopoietic stem cell transplantation in major histocompatiblity complex class II immunodeficiency: reduced survival correlates with an increased incidence of acute graft-versus-host disease and pre-existing viral infections.
Renella R, Picard C, Neven B, Ouachée-Chardin M, Casanova JL, Le Deist F, Cavazzana-Calvo M, Blanche S, Fischer A. Renella R, et al. Among authors: le deist f. Br J Haematol. 2006 Sep;134(5):510-6. doi: 10.1111/j.1365-2141.2006.06213.x. Br J Haematol. 2006. PMID: 16848795 Free article.
[Defect in lytic granule exocytosis: several causes, a same effect].
Ménasché G, Ménager M, Le Deist F, Fischer A, de Saint Basile G. Ménasché G, et al. Among authors: le deist f. Med Sci (Paris). 2006 Aug-Sep;22(8-9):733-8. doi: 10.1051/medsci/20062289733. Med Sci (Paris). 2006. PMID: 16962048 Free article. Review. French.
Munc18-2 deficiency causes familial hemophagocytic lymphohistiocytosis type 5 and impairs cytotoxic granule exocytosis in patient NK cells.
Côte M, Ménager MM, Burgess A, Mahlaoui N, Picard C, Schaffner C, Al-Manjomi F, Al-Harbi M, Alangari A, Le Deist F, Gennery AR, Prince N, Cariou A, Nitschke P, Blank U, El-Ghazali G, Ménasché G, Latour S, Fischer A, de Saint Basile G. Côte M, et al. Among authors: le deist f. J Clin Invest. 2009 Dec;119(12):3765-73. doi: 10.1172/JCI40732. Epub 2009 Nov 2. J Clin Invest. 2009. PMID: 19884660 Free PMC article.
288 results