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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. Cell. 2003 Nov 14;115(4):461-73. doi: 10.1016/s0092-8674(03)00855-9. Cell. 2003. PMID: 14622600 Free article.
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. 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.
Clinical similarities and differences of patients with X-linked lymphoproliferative syndrome type 1 (XLP-1/SAP deficiency) versus type 2 (XLP-2/XIAP deficiency).
Pachlopnik Schmid J, Canioni D, Moshous D, Touzot F, Mahlaoui N, Hauck F, Kanegane H, Lopez-Granados E, Mejstrikova E, Pellier I, Galicier L, Galambrun C, Barlogis V, Bordigoni P, Fourmaintraux A, Hamidou M, Dabadie A, Le Deist F, Haerynck F, Ouachée-Chardin M, Rohrlich P, Stephan JL, Lenoir C, Rigaud S, Lambert N, Milili M, Schiff C, Chapel H, Picard C, de Saint Basile G, Blanche S, Fischer A, Latour S. Pachlopnik Schmid J, et al. Blood. 2011 Feb 3;117(5):1522-9. doi: 10.1182/blood-2010-07-298372. Epub 2010 Nov 30. Blood. 2011. PMID: 21119115 Free article.
A 1-Year Prospective French Nationwide Study of Emergency Hospital Admissions in Children and Adults with Primary Immunodeficiency.
Coignard-Biehler H, Mahlaoui N, Pilmis B, Barlogis V, Brosselin P, De Vergnes N, Debré M, Malphettes M, Frange P, Catherinot E, Pellier I, Durieu I, Perlat A, Royer B, Le Quellec A, Jeziorski E, Fischer A, Lortholary O; CEREDIH French PID study group; Aaron L, Adoue D, Aguilar C, Aladjidi N, Alcais A, Amoura Z, Arlet P, Armari-Alla C, Bader-Meunier B, Bayart S, Bertrand Y, Bienvenu B, Blanche S, Bodet D, Bonnotte B, Borie R, Boutard P, Briandet C, Brion JP, Brouard J, Cohen-Beaussant S, Costes L, Couderc LJ, Cougoul P, Courteille V, de Saint Basile G, Devoldere C, Deville A, Donadieu J, Dore E, Dulieu F, Edan C, Entz-Werle N, Fieschi C, Forestier A, Fouyssac F, Gajdos V, Galicier L, Gandemer V, Gardembas M, Gaud C, Guillerm G, Hachulla E, Hamidou M, Hermine O, Hoarau C, Humbert S, Jaccard A, Jacquot S, Jais JP, Jaussaud R, Jeandel PY, Kebaili K, Korganow AS, Lambotte O, Lanternier F, Larroche C, Lascaux AS, Le Moigne E, Le Moing V, Lebranchu Y, Lecuit M, Lefevre G, Lemal R, Te VLT, Marie-Cardine A, Silva NM, Masseau A, Massot C, Mazingue F, Merlin E, Michel G, Millot F, Monlibert B, Monpoux F, Moshous D, Mouthon L, Munzer M, Neven B, Nove-Josserand R, Oksenhendler E, Ouachée-Chard… See abstract for full author list ➔ Coignard-Biehler H, et al. J Clin Immunol. 2019 Oct;39(7):702-712. doi: 10.1007/s10875-019-00658-9. Epub 2019 Aug 10. J Clin Immunol. 2019. PMID: 31401750
43 results