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European Journal of Human Genetics : EJHG|May 17, 2024
The phenotype of MEGF8-related Carpenter syndrome (CRPT2) is refined through the identification of eight new patientsLaura M Watts, Marta Bertoli, Tania Attie-Bitach, et al.
Immunogenetics|March 6, 2003
Novel mutations in the RFXANK gene: RFX complex containing in-vitro-generated RFXANK mutant binds the promoter without transactivating MHC IIWojciech Wiszniewski, Marie-Claude Fondaneche, Pascale Louise-Plence, et al.
EMBO Molecular Medicine|January 6, 2010
Neutralization of IFNgamma defeats haemophagocytosis in LCMV-infected perforin- and Rab27a-deficient miceJana Pachlopnik Schmid, Chen-H Ho, Fabrice Chrétien, et al.
The Pediatric Infectious Disease Journal|December 25, 2008
Multiple relapses of visceral leishmaniasis in an adolescent with idiopathic CD4+ lymphocytopenia associated with novel immunophenotypic and molecular featuresIgnazia Prigione, Elio Castagnola, Luisa Imberti, et al.
The New England Journal of Medicine|May 8, 2009
STIM1 mutation associated with a syndrome of immunodeficiency and autoimmunityCapucine Picard, Christie-Ann McCarl, Alexander Papolos, et al.
The Journal of Experimental Medicine|May 10, 2017
Intrinsic antiproliferative activity of the innate sensor STING in T lymphocytesSilvia Cerboni, Nadia Jeremiah, Matteo Gentili, et al.
Clinical Infectious Diseases : an Official Publication of the Infectious Diseases Society of America|January 23, 2003
Enteroviral meningoencephalitis after anti-CD20 (rituximab) treatmentPierre Quartier, Olivier Tournilhac, Christine Archimbaud, et al.
Human Gene Therapy|April 27, 2002
Adenovirally transduced dendritic cells induce bispecific cytotoxic T lymphocyte responses against adenovirus and cytomegalovirus pp65 or against adenovirus and Epstein-Barr virus EBNA3C protein: a novel approach for immunotherapyYamina Hamel, Neil Blake, Susanne Gabrielsson, et al.
Blood|December 16, 2004
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activityJérôme Feldmann, Gaël Ménasché, Isabelle Callebaut, et al.
Blood|September 25, 2008
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretionGaël Ménasché, Mickaël M Ménager, Juliette M Lefebvre, et al.
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