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Geneviève de Saint Basile

This is a preview profile on BiomedExperts - the first literature-based scientific social network. It brings the right researchers together and allows them to collaborate online. Collexis and Dell provide the BiomedExperts network of +1.5 Million pre-calculated profiles free of charge to researchers worldwide.

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Ménasché Gaël; de Saint Basile Geneviève
EBAG9 tempers lymphocyte killing activity.
Pachlopnik Schmid Jana; Moshous Despina; Boddaert Nathalie; Neven Bénédicte; Dal Cortivo Liliane; Tardieu Marc; Cavazzana-Calvo Marina; Blanche Stéphane; de Saint Basile Geneviève; Fischer Alain
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients.
Burgess Agathe; Mornon Jean-Paul; de Saint-Basile Geneviève; Callebaut Isabelle
A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.

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All Publications

2009: Ménasché Gaël; de Saint Basile Geneviève
EBAG9 tempers lymphocyte killing activity.
The Journal of clinical investigation 2009;119(8):2136-40.
2009: Pachlopnik Schmid Jana; Moshous Despina; Boddaert Nathalie; Neven Bénédicte; Dal Cortivo Liliane; Tardieu Marc; Cavazzana-Calvo Marina; Blanche Stéphane; de Saint Basile Geneviève; Fischer Alain
Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patients.
Blood 2009;114(1):211-8.
2009: Burgess Agathe; Mornon Jean-Paul; de Saint-Basile Geneviève; Callebaut Isabelle
A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH family.
Bioinformatics (Oxford, England) 2009;25(10):1219-22.
2009: Neven Bénédicte; Leroy Sandrine; Decaluwe Hélène; Le Deist Francoise; Picard Capucine; Moshous Despina; Mahlaoui Nizar; Debré Marianne; Casanova Jean-Laurent; Dal Cortivo Liliane; Madec Yoann; Hacein-Bey-Abina Salima; de Saint Basile Geneviève; de Villartay Jean-Pierre; Blanche Stéphane; Cavazzana-Calvo Marina; Fischer Alain
Long-term outcome after hematopoietic stem cell transplantation of a single-center cohort of 90 patients with severe combined immunodeficiency.
Blood 2009;113(17):4114-24.
2008: Ménasché Gaël; Ménager Mickaël M; Lefebvre Juliette M; Deutsch Einat; Athman Rafika; Lambert Nathalie; Mahlaoui Nizar; Court Magali; Garin Jérôme; Fischer Alain; de Saint Basile Geneviève
A newly identified isoform of Slp2a associates with Rab27a in cytotoxic T cells and participates to cytotoxic granule secretion.
Blood 2008;112(13):5052-62.
2008: Pachlopnik Schmid Jana; Ho Chen-Hsuan; Diana Julien; Pivert Gérard; Lehuen Agnès; Geissmann Frédéric; Fischer Alain; de Saint Basile Geneviève
A Griscelli syndrome type 2 murine model of hemophagocytic lymphohistiocytosis (HLH).
European journal of immunology 2008;38(11):3219-25.
2008: Vogt Guillaume; Bustamante Jacinta; Chapgier Ariane; Feinberg Jacqueline; Boisson Dupuis Stephanie; Picard Capucine; Mahlaoui Nizar; Gineau Laure; Alcaïs Alexandre; Lamaze Christophe; Puck Jennifer M; de Saint Basile Geneviève; Khayat Claudia Djambas; Mikhael Raymond; Casanova Jean-Laurent
Complementation of a pathogenic IFNGR2 misfolding mutation with modifiers of N-glycosylation.
The Journal of experimental medicine 2008;205(8):1729-37.
2008: Masri Amira; Bakri Faris G; Al-Hussaini Maissa; Al-Hadidy Azmy; Hirzallah Rania; de Saint Basile Geneviève; Hamamy Hanan
Griscelli syndrome type 2: a rare and lethal disorder.
Journal of child neurology 2008;23(8):964-7.
2008: Pivot-Pajot Christophe; Varoqueaux Frederique; de Saint Basile Geneviève; Bourgoin Sylvain G
Munc13-4 regulates granule secretion in human neutrophils.
Journal of immunology (Baltimore, Md. : 1950) 2008;180(10):6786-97.
2008: Rougemont Anne-Laure; Fournet Jean-Christophe; Martin Steven R; de Saint-Basile Geneviève; Latour Sylvain; Primeau Marie-Noël; Rubbia-Brandt Laura; Haddad Elie; Le Deist Françoise
Chronic active gastritis in X-linked lymphoproliferative disease.
The American journal of surgical pathology 2008;32(2):323-8.
2007: Mateo Véronique; Ménager Michael; de Saint-Basile Geneviève; Stolzenberg Marie-Claude; Roquelaure Bertrand; André Nicolas; Florkin Benoit; le Deist Françoise; Picard Capucine; Fischer Alain; Rieux-Laucat Frédéric
Perforin-dependent apoptosis functionally compensates Fas deficiency in activation-induced cell death of human T lymphocytes.
Blood 2007;110(13):4285-92.
2007: Mahlaoui Nizar; Ouachée-Chardin Marie; de Saint Basile Geneviève; Neven Bénédicte; Picard Capucine; Blanche Stéphane; Fischer Alain
Immunotherapy of familial hemophagocytic lymphohistiocytosis with antithymocyte globulins: a single-center retrospective report of 38 patients.
Pediatrics 2007;120(3):e622-8.
2007: Proust Alexis; Guillet Benoît; Picard Capucine; de Saint Basile Geneviève; Pondarré Corinne; Tamary Hannah; Dreyfus Marie; Tchernia Gil; Fischer Alain; Delaunay Jean
Detection of 28 novel mutations in the Wiskott-Aldrich syndrome and X-linked thrombocytopenia based on multiplex PCR.
Blood cells, molecules & diseases 2007;39(1):102-6.
2007: Fischer Alain; Latour Sylvain; de Saint Basile Geneviève
Genetic defects affecting lymphocyte cytotoxicity.
Current opinion in immunology 2007;19(3):348-53.
2007: Ménager Mickaël; de Saint Basile Geneviève
[Secretory cytotoxic granule maturation is required to their lytic contents excretion]
Médecine sciences : M/S 2007;23(5):473-4.
2007: Ménager Mickaël M; Ménasché Gaël; Romao Maryse; Knapnougel Perrine; Ho Chen-Hsuan; Garfa Mériem; Raposo Graça; Feldmann Jérôme; Fischer Alain; de Saint Basile Geneviève
Secretory cytotoxic granule maturation and exocytosis require the effector protein hMunc13-4.
Nature immunology 2007;8(3):257-67.
2007: Le Deist Françoise; de Saint Basile Geneviève; Rieux-Laucat Frédéric; Hivroz Claire; Fischer Alain
[Expression anomalies of the CD3-TCR complex expression and immunodeficiencies]
Médecine sciences : M/S 2007;23(2):161-6.
2006: Rigaud Stéphanie; Fondanèche Marie-Claude; Lambert Nathalie; Pasquier Benoit; Mateo Véronique; Soulas Pauline; Galicier Lionel; Le Deist Françoise; Rieux-Laucat Frédéric; Revy Patrick; Fischer Alain; de Saint Basile Geneviève; Latour Sylvain
XIAP deficiency in humans causes an X-linked lymphoproliferative syndrome.
Nature 2006;444(7115):110-4.
2006: Ménasché Gaël; Ménager Mickaël; Le Deist Françoise; Fischer Alain; de Saint Basile Geneviève
[Defect in lytic granule exocytosis: several causes, a same effect]
Médecine sciences : M/S 2006;22(8-9):733-8.
2006: Lee Susan Molleran; Sumegi Janos; Villanueva Joyce; Tabata Yasuhiro; Zhang Kejian; Chakraborty Ranajit; Sheng Xiaohua; Clementi Rita; de Saint Basile Genevieve; Filipovich Alexandra H
Patients of African ancestry with hemophagocytic lymphohistiocytosis share a common haplotype of PRF1 with a 50delT mutation.
The Journal of pediatrics 2006;149(1):134-7.
2006: Ouachée-Chardin Marie; Elie Caroline; de Saint Basile Geneviève; Le Deist Françoise; Mahlaoui Nizar; Picard Capucine; Neven Bénédicte; Casanova Jean-Laurent; Tardieu Marc; Cavazzana-Calvo Marina; Blanche Stéphane; Fischer Alain
Hematopoietic stem cell transplantation in hemophagocytic lymphohistiocytosis: a single-center report of 48 patients.
Pediatrics 2006;117(4):e743-50.
2006: Giliani Silvia; Bonfim Carmen; de Saint Basile Genevieve; Lanzi Gaetana; Brousse Nicole; Koliski Adriana; Malvezzi Mariester; Fischer Alain; Notarangelo Luigi D; Le Deist Francoise
Omenn syndrome in an infant with IL7RA gene mutation.
The Journal of pediatrics 2006;148(2):272-4.
2005: Fischer Alain; de Saint Basile Geneviève; Le Deist Françoise
CD3 deficiencies.
Current opinion in allergy and clinical immunology 2005;5(6):491-5.
2005: Almousa H; Ouachée-Chardin M; Picard C; Radford-Weiss I; Caillat-Zucman S; Cavazzana-Calvo M; Blanche S; de Saint Basile G; Le Deist F; Fischer A
Transient familial haemophagocytic lymphohistiocytosis reactivation post-CD34 haematopoietic stem cell transplantation.
British journal of haematology 2005;130(3):404-8.
2005: Tardieu Marc; Lacroix Catherine; Neven Bénédicte; Bordigoni Pierre; de Saint Basile Geneviève; Blanche Stéphane; Fischer Alain
Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndrome.
Blood 2005;106(1):40-2.
2005: Thrasher Adrian J; Hacein-Bey-Abina Salima; Gaspar H Bobby; Blanche Stephane; Davies E Graham; Parsley Kathryn; Gilmour Kimberly; King Douglas; Howe Steven; Sinclair Joanna; Hue Christophe; Carlier Frédérique; von Kalle Christof; de Saint Basile Geneviève; le Deist Françoise; Fischer Alain; Cavazzana-Calvo Marina
Failure of SCID-X1 gene therapy in older patients.
Blood 2005;105(11):4255-7.
2005: Feldmann Jérôme; Ménasché Gaël; Callebaut Isabelle; Minard-Colin Véronique; Bader-Meunier Brigitte; Le Clainche Laurence; Fischer Alain; Le Deist Françoise; Tardieu Marc; de Saint Basile Geneviève
Severe and progressive encephalitis as a presenting manifestation of a novel missense perforin mutation and impaired cytolytic activity.
Blood 2005;105(7):2658-63.
2005: Pasquier Benoit; Yin Luo; Fondanèche Marie-Claude; Relouzat Francis; Bloch-Queyrat Coralie; Lambert Nathalie; Fischer Alain; de Saint-Basile Geneviève; Latour Sylvain
Defective NKT cell development in mice and humans lacking the adapter SAP, the X-linked lymphoproliferative syndrome gene product.
The Journal of experimental medicine 2005;201(5):695-701.
2005: Ménasché Gael; Feldmann Jérôme; Fischer Alain; de Saint Basile Geneviève
Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasis.
Immunological reviews 2005;203():165-79.
2005: Giliani Silvia; Mori Luigi; de Saint Basile Geneviève; Le Deist Francoise; Rodriguez-Perez Carmen; Forino Concetta; Mazzolari Evelina; Dupuis Sophie; Elhasid Ronit; Kessel Aharon; Galambrun Claire; Gil Juana; Fischer Alain; Etzioni Amos; Notarangelo Luigi D
Interleukin-7 receptor alpha (IL-7Ralpha) deficiency: cellular and molecular bases. Analysis of clinical, immunological, and molecular features in 16 novel patients.
Immunological reviews 2005;203():110-26.
2005: Rieux-Laucat Frédéric; Le Deist Françoise; De Saint Basile Geneviève
Autoimmune lymphoproliferative syndrome and perforin.
The New England journal of medicine 2005;352(3):306-7; author reply 306-7.
2005: Tezcan Ilhan; Ersoy Fugen; Sanal Ozden; Turul Tuba; Uckan Duygu; Balci Sevim; Hicsonmez Gonul; Prieur M; Caillat-Zucmann S; Le Deist Francois; De Saint Basile Genevieve
Long-term survival in severe combined immune deficiency: the role of persistent maternal engraftment.
The Journal of pediatrics 2005;146(1):137-40.
2004: de Saint Basile Geneviève; Geissmann Frédéric; Flori Elisabeth; Uring-Lambert Béatrice; Soudais Claire; Cavazzana-Calvo Marina; Durandy Anne; Jabado Nada; Fischer Alain; Le Deist Françoise
Severe combined immunodeficiency caused by deficiency in either the delta or the epsilon subunit of CD3.
The Journal of clinical investigation 2004;114(10):1512-7.
2004: Bizario João C S; Feldmann Jérôme; Castro Fabíola A; Ménasché Gaël; Jacob Cristina M A; Cristofani L; Casella Erasmo B; Voltarelli Júlio C; de Saint-Basile Geneviève; Espreafico Enilza M
Griscelli syndrome: characterization of a new mutation and rescue of T-cytotoxic activity by retroviral transfer of RAB27A gene.
Journal of clinical immunology 2004;24(4):397-410.
2004: Laffort Caroline; Le Deist Françoise; Favre Michel; Caillat-Zucman Sophie; Radford-Weiss Isabelle; Debré Marianne; Fraitag Sylvie; Blanche Stéphane; Cavazzana-Calvo Marina; de Saint Basile Geneviève; de Villartay Jean Pierre; Giliani Silvia; Orth Gérard; Casanova Jean Laurent; Bodemer Christine; Fischer Alain
Severe cutaneous papillomavirus disease after haemopoietic stem-cell transplantation in patients with severe combined immune deficiency caused by common gammac cytokine receptor subunit or JAK-3 deficiency.
Lancet 2004;363(9426):2051-4.
2004: Dolman Koert M; Révész Thomas; Niemeyer Charlotte M; van Wering Elisabeth R; de Saint Basile Genevieve; Canninga Marijke; Bierings Marc B; Wulffraat Nico M
Myelodysplastic features in Griscelli syndrome.
Journal of pediatric hematology/oncology : official journal of the American Society of Pediatric Hematology/Oncology 2004;26(5):275-6.
2004: Neven Bénédicte; Callebaut Isabelle; Prieur Anne-Marie; Feldmann Jérôme; Bodemer Christine; Lepore Loredana; Derfalvi Beata; Benjaponpitak Suata; Vesely Richard; Sauvain Marie Jose; Oertle Stefan; Allen Roger; Morgan Gareth; Borkhardt Arndt; Hill Clare; Gardner-Medwin Janet; Fischer Alain; de Saint Basile Geneviève
Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCU.
Blood 2004;103(7):2809-15.
2004: Feldmann Jérôme; Le Deist Françoise; Fischer Alain; de Saint Basile Geneviève
[Munc13-4 is essential for cytolytic granule fusion]
Médecine sciences : M/S 2004;20(2):144-6.
2003: Feldmann Jérôme; Callebaut Isabelle; Raposo Graça; Certain Stéphanie; Bacq Delphine; Dumont Cécile; Lambert Nathalie; Ouachée-Chardin Marie; Chedeville Gaëlle; Tamary Hannah; Minard-Colin Véronique; Vilmer Etienne; Blanche Stéphane; Le Deist Françoise; Fischer Alain; de Saint Basile Geneviève
Munc13-4 is essential for cytolytic granules fusion and is mutated in a form of familial hemophagocytic lymphohistiocytosis (FHL3).
Cell 2003;115(4):461-73.
2003: Desnos Claire; Schonn Jean-Sébastien; Huet Sébastien; Tran Viet Samuel; El-Amraoui Aziz; Raposo Graça; Fanget Isabelle; Chapuis Catherine; Ménasché Gaël; de Saint Basile Geneviève; Petit Christine; Cribier Sophie; Henry Jean-Pierre; Darchen François
Rab27A and its effector MyRIP link secretory granules to F-actin and control their motion towards release sites.
The Journal of cell biology 2003;163(3):559-70.
2003: Ménasché Gaël; Ho Chen Hsuan; Sanal Ozden; Feldmann Jérôme; Tezcan Ilhan; Ersoy Fügen; Houdusse Anne; Fischer Alain; de Saint Basile Geneviève
Griscelli syndrome restricted to hypopigmentation results from a melanophilin defect (GS3) or a MYO5A F-exon deletion (GS1).
The Journal of clinical investigation 2003;112(3):450-6.
2003: de Saint Basile Geneviève; Fischer Alain
Defective cytotoxic granule-mediated cell death pathway impairs T lymphocyte homeostasis.
Current opinion in rheumatology 2003;15(4):436-45.
2003: Dupuis-Girod Sophie; Medioni Jacques; Haddad Elie; Quartier Pierre; Cavazzana-Calvo Marina; Le Deist Françoise; de Saint Basile Geneviève; Delaunay Jean; Schwarz Klaus; Casanova Jean-Laurent; Blanche Stephane; Fischer Alain
Autoimmunity in Wiskott-Aldrich syndrome: risk factors, clinical features, and outcome in a single-center cohort of 55 patients.
Pediatrics 2003;111(5 Pt 1):e622-7.
2003: Menasche Gaël; Feldmann Jérôme; Houdusse Anne; Desaymard Catherine; Fischer Alain; Goud Bruno; de Saint Basile Genèvieve
Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patients.
Blood 2003;101(7):2736-42.
2003: Bahadoran Philippe; Ortonne Jean-Paul; Ballotti Robert; de Saint-Basile Geneviève
Comment on Elejalde syndrome and relationship with Griscelli syndrome.
American journal of medical genetics. Part A 2003;116A(4):408-9.
2003: Hacein-Bey-Abina Salima; de Saint Basile Genevieve; Cavazzana-Calvo Marina
Gene therapy of X-linked severe combined immunodeficiency.
Methods in molecular biology (Clifton, N.J.) 2003;215():247-59.
2002: Ménasché Gaël; Fischer Alain; de Saint Basile Geneviève
Griscelli syndrome types 1 and 2.
American journal of human genetics 2002;71(5):1237-8; author reply 1238.
2002: Bidère Nicolas; Briet Marie; Dürrbach Antoine; Dumont Céline; Feldmann Jérôme; Charpentier Bernard; de Saint-Basile Geneviève; Senik Anna
Selective inhibition of dipeptidyl peptidase I, not caspases, prevents the partial processing of procaspase-3 in CD3-activated human CD8(+) T lymphocytes.
The Journal of biological chemistry 2002;277(35):32339-47.
2002: Sanal Ozden; Ersoy Fúgen; Tezcan Ilhan; Metin Ayse; Yel Leman; Ménasché Gaël; Gürgey Aytemiz; Berkel Izzet; de Saint Basile Geneviève
Griscelli disease: genotype-phenotype correlation in an array of clinical heterogeneity.
Journal of clinical immunology 2002;22(4):237-43.
2002: Feldmann Jérôme; Prieur Anne-Marie; Quartier Pierre; Berquin Patrick; Certain Stephanie; Cortis Elisabetta; Teillac-Hamel Dominique; Fischer Alain; de Saint Basile Genevieve
Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytes.
American journal of human genetics 2002;71(1):198-203.
2002: Feldmann Jérôme; Le Deist Françoise; Ouachée-Chardin Marie; Certain Stéphanie; Alexander Sarah; Quartier Pierre; Haddad Elie; Wulffraat Nico; Casanova Jean Laurent; Blanche Stéphane; Fischer Alain; de Saint Basile Geneviève
Functional consequences of perforin gene mutations in 22 patients with familial haemophagocytic lymphohistiocytosis.
British journal of haematology 2002;117(4):965-72.
2002: Fischer Alain; Hacein-Bey Salima; Le Deist Franèoise; de Saint Basile Geneviòve; Cavazzana-Calvo Marina
Gene therapy for human severe combined immunodeficiencies.
The Israel Medical Association journal : IMAJ 2002;4(1):51-4.
2001: de Saint Basile G; Fischer A
The role of cytotoxicity in lymphocyte homeostasis.
Current opinion in immunology 2001;13(5):549-54.
2001: Fischer A; Hacein-Bey S; Le Deist F; de Saint Basile G; Cavazzana-Calvo M
Gene therapy for human severe combined immunodeficiencies.
Immunity 2001;15(1):1-4.
2001: Göransdotter Ericson K; Fadeel B; Nilsson-Ardnor S; Söderhäll C; Samuelsson A; Janka G; Schneider M; Gürgey A; Yalman N; Révész T; Egeler R; Jahnukainen K; Storm-Mathiesen I; Haraldsson A; Poole J; de Saint Basile G; Nordenskjöld M; Henter J
Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosis.
American journal of human genetics 2001;68(3):590-7.
2001: Bahadoran P; Aberdam E; Mantoux F; Buscà R; Bille K; Yalman N; de Saint-Basile G; Casaroli-Marano R; Ortonne J P; Ballotti R
Rab27a: A key to melanosome transport in human melanocytes.
The Journal of cell biology 2001;152(4):843-50.
2001: Fischer A; Hacein-Bey S; Le Deist F; De Saint Basile G; Cavazzana-Calvo M
Gene therapy of severe combined immunodeficiencies.
Advances in experimental medicine and biology 2001;495():199-204.
2000: Fischer A; Hacein-Bey S; Le Deist F; Soudais C; Di Santo J P; de Saint Basile G; Cavazzana-Calvo M
Gene therapy of severe combined immunodeficiencies.
Immunological reviews 2000;178():13-20.
2000: Sanal O; Yel L; Kucukali T; Gilbert-Barnes E; Tardieu M; Texcan I; Ersoy F; Metin A; de Saint Basile G
An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder).
Journal of neurology 2000;247(7):570-2.
2000: Cavazzana-Calvo M; Hacein-Bey S; de Saint-Basile G; Le Deist F; Fischer A
[Gene therapy of severe combined immunodeficiencies]
Transfusion clinique et biologique : journal de la Société française de transfusion sanguine 2000;7(3):259-60.
2000: Ménasché G; Pastural E; Feldmann J; Certain S; Ersoy F; Dupuis S; Wulffraat N; Bianchi D; Fischer A; Le Deist F; de Saint Basile G
Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome.
Nature genetics 2000;25(2):173-6.
2000: Stepp S E; Mathew P A; Bennett M; de Saint Basile G; Kumar V
Perforin: more than just an effector molecule.
Immunology today 2000;21(6):254-6.
2000: Cavazzana-Calvo M; Hacein-Bey S; de Saint Basile G; Gross F; Yvon E; Nusbaum P; Selz F; Hue C; Certain S; Casanova J L; Bousso P; Deist F L; Fischer A
Gene therapy of human severe combined immunodeficiency (SCID)-X1 disease.
Science (New York, N.Y.) 2000;288(5466):669-72.
2000: Pastural E; Ersoy F; Yalman N; Wulffraat N; Grillo E; Ozkinay F; Tezcan I; Gediköglu G; Philippe N; Fischer A; de Saint Basile G
Two genes are responsible for Griscelli syndrome at the same 15q21 locus.
Genomics 2000;63(3):299-306.
2000: Certain S; Barrat F; Pastural E; Le Deist F; Goyo-Rivas J; Jabado N; Benkerrou M; Seger R; Vilmer E; Beullier G; Schwarz K; Fischer A; de Saint Basile G
Protein truncation test of LYST reveals heterogenous mutations in patients with Chediak-Higashi syndrome.
Blood 2000;95(3):979-83.
2000: Bousso P; Wahn V; Douagi I; Horneff G; Pannetier C; Le Deist F; Zepp F; Niehues T; Kourilsky P; Fischer A; de Saint Basile G
Diversity, functionality, and stability of the T cell repertoire derived in vivo from a single human T cell precursor.
Proceedings of the National Academy of Sciences of the United States of America 2000;97(1):274-8.
2000: Fischer A; Hacein-Bey S; Le Deist F; de Saint Basile G; de Villartay J P; Cavazzana-Calvo M
[Gene therapy for immune deficiencies]
Bulletin de l'Académie nationale de médecine 2000;184(7):1417-28; discussion 1428-30.
1999: Stepp S E; Dufourcq-Lagelouse R; Le Deist F; Bhawan S; Certain S; Mathew P A; Henter J I; Bennett M; Fischer A; de Saint Basile G; Kumar V
Perforin gene defects in familial hemophagocytic lymphohistiocytosis.
Science (New York, N.Y.) 1999;286(5446):1957-9.
1999: Haddad E; Le Deist F; Aucouturier P; Cavazzana-Calvo M; Blanche S; De Saint Basile G; Fischer A
Long-term chimerism and B-cell function after bone marrow transplantation in patients with severe combined immunodeficiency with B cells: A single-center study of 22 patients.
Blood 1999;94(8):2923-30.
1999: Dufourcq-Lagelouse R; Lambert N; Duval M; Viot G; Vilmer E; Fischer A; Prieur M; de Saint Basile G
Chediak-Higashi syndrome associated with maternal uniparental isodisomy of chromosome 1.
European journal of human genetics : EJHG 1999;7(6):633-7.
1999: Dufourcq-Lagelouse R; Pastural E; Barrat F J; Feldmann J; Le Deist F; Fischer A; De Saint Basile G
Genetic basis of hemophagocytic lymphohistiocytosis syndrome (Review).
International journal of molecular medicine 1999;4(2):127-33.
1999: Barrat F J; Le Deist F; Benkerrou M; Bousso P; Feldmann J; Fischer A; de Saint Basile G
Defective CTLA-4 cycling pathway in Chediak-Higashi syndrome: a possible mechanism for deregulation of T lymphocyte activation.
Proceedings of the National Academy of Sciences of the United States of America 1999;96(15):8645-50.
1999: Quartier P; Debré M; De Blic J; de Sauverzac R; Sayegh N; Jabado N; Haddad E; Blanche S; Casanova J L; Smith C I; Le Deist F; de Saint Basile G; Fischer A
Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.
The Journal of pediatrics 1999;134(5):589-96.
1999: de Saint Basile G; Tabone M D; Durandy A; Phan F; Fischer A; Le Deist F
CD40 ligand expression deficiency in a female carrier of the X-linked hyper-IgM syndrome as a result of X chromosome lyonization.
European journal of immunology 1999;29(1):367-73.
1999: Dufourcq-Lagelouse R; Jabado N; Le Deist F; Stéphan J L; Souillet G; Bruin M; Vilmer E; Schneider M; Janka G; Fischer A; de Saint Basile G
Linkage of familial hemophagocytic lymphohistiocytosis to 10q21-22 and evidence for heterogeneity.
American journal of human genetics 1999;64(1):172-9.
1999: Bourc'his D; Miniou P; Jeanpierre M; Molina Gomes D; Dupont J; De Saint-Basile G; Maraschio P; Tiepolo L; Viegas-Péquignot E
Abnormal methylation does not prevent X inactivation in ICF patients.
Cytogenetics and cell genetics 1999;84(3-4):245-52.
1999: Dufourcq-Lagelouse R; Pastural E; Barrat F J; Le Deist F; Fischer A; de Saint Basile G
[Genetic defects in control of T cell activation evolving in a syndrome of lymphohistiocytic activation]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1999;6 Suppl 2():417s-419s.
1997: Barrat F J; Depetris D; Certain S; Mattei M G; de Saint Basile G
Localization of the Rab escort protein-2 (REP2) and inositol 1,4,5-trisphosphate 3-kinase (ITPKB) genes to mouse chromosome 1 by in situ hybridization and precision of the syntenic regions between mouse and human 1q42-q44.
Genomics 1997;43(1):111-3.
1997: Barbosa M D; Barrat F J; Tchernev V T; Nguyen Q A; Mishra V S; Colman S D; Pastural E; Dufourcq-Lagelouse R; Fischer A; Holcombe R F; Wallace M R; Brandt S J; de Saint Basile G; Kingsmore S F
Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.
Human molecular genetics 1997;6(7):1091-8.
1997: Pastural E; Barrat F J; Dufourcq-Lagelouse R; Certain S; Sanal O; Jabado N; Seger R; Griscelli C; Fischer A; de Saint Basile G
Griscelli disease maps to chromosome 15q21 and is associated with mutations in the myosin-Va gene.
Nature genetics 1997;16(3):289-92.
1997: Fischer A; Cavazzana-Calvo M; De Saint Basile G; DeVillartay J P; Di Santo J P; Hivroz C; Rieux-Laucat F; Le Deist F
Naturally occurring primary deficiencies of the immune system.
Annual review of immunology 1997;15():93-124.
1997: Fischer A; De Saint Basile G; Disanto J P; Hacein-Bey S; Sharara L; Cavazzana-Calvo M
Gene therapy of primary immunodeficiencies.
Advances in nephrology from the Necker Hospital 1997;26():107-20.
1996: Cavazzana-Calvo M; Hacein-Bey S; de Saint Basile G; De Coene C; Selz F; Le Deist F; Fischer A
Role of interleukin-2 (IL-2), IL-7, and IL-15 in natural killer cell differentiation from cord blood hematopoietic progenitor cells and from gamma c transduced severe combined immunodeficiency X1 bone marrow cells.
Blood 1996;88(10):3901-9.
1996: Barrat F J; Auloge L; Pastural E; Lagelouse R D; Vilmer E; Cant A J; Weissenbach J; Le Paslier D; Fischer A; de Saint Basile G
Genetic and physical mapping of the Chediak-Higashi syndrome on chromosome 1q42-43.
American journal of human genetics 1996;59(3):625-32.
1996: de Saint Basile G; Lagelouse R D; Lambert N; Schwarz K; Le Mareck B; Odent S; Schlegel N; Fischer A
Isolated X-linked thrombocytopenia in two unrelated families is associated with point mutations in the Wiskott-Aldrich syndrome protein gene.
The Journal of pediatrics 1996;129(1):56-62.
1996: Markiewicz S; Bosselut R; Le Deist F; de Villartay J P; Hivroz C; Ghysdael J; Fischer A; de Saint Basile G
Tissue-specific activity of the gammac chain gene promoter depends upon an Ets binding site and is regulated by GA-binding protein.
The Journal of biological chemistry 1996;271(25):14849-55.
1996: Hacein-Bey H; Cavazzana-Calvo M; Le Deist F; Dautry-Varsat A; Hivroz C; Rivière I; Danos O; Heard J M; Sugamura K; Fischer A; De Saint Basile G
gamma-c gene transfer into SCID X1 patients' B-cell lines restores normal high-affinity interleukin-2 receptor expression and function.
Blood 1996;87(8):3108-16.
1996: Fischer A; de Saint-Basile G; Disanto J P; Hacein-Bey S; Sharara L; Cavazzana-Calvo M
[Gene therapy for hereditary immunodeficiencies]
Comptes rendus des séances de la Société de biologie et de ses filiales 1996;190(1):77-93.
1996: Fischer A; de Saint-Basile G; Disanto J P; Hacein-Bey S; Sharara L; Cavazzana-Calvo M
[Gene therapy of hereditary immunologic deficiencies]
Archives de pédiatrie : organe officiel de la Sociéte française de pédiatrie 1996;3 Suppl 1():69s-76s.
1995: de Saint Basile G; di Santo J P; Fischer A
Genetic studies in severe combined immunodeficiency.
Clinical immunology and immunopathology 1995;76(3 Pt 2):S165-7.
1995: Thomas C; de Saint Basile G; Le Deist F; Theophile D; Benkerrou M; Haddad E; Blanche S; Fischer A
Brief report: correction of X-linked hyper-IgM syndrome by allogeneic bone marrow transplantation.
The New England journal of medicine 1995;333(7):426-9.
1995: Durandy A; De Saint Basile G; Lisowska-Grospierre B; Gauchat J F; Forveille M; Kroczek R A; Bonnefoy J Y; Fischer A
Undetectable CD40 ligand expression on T cells and low B cell responses to CD40 binding agonists in human newborns.
Journal of immunology (Baltimore, Md. : 1950) 1995;154(4):1560-8.
1994: DiSanto J P; Certain S; Wilson A; MacDonald H R; Avner P; Fischer A; de Saint Basile G
The murine interleukin-2 receptor gamma chain gene: organization, chromosomal localization and expression in the adult thymus.
European journal of immunology 1994;24(12):3014-8.
1994: DiSanto J P; Rieux-Laucat F; Dautry-Varsat A; Fischer A; de Saint Basile G
Defective human interleukin 2 receptor gamma chain in an atypical X chromosome-linked severe combined immunodeficiency with peripheral T cells.
Proceedings of the National Academy of Sciences of the United States of America 1994;91(20):9466-70.
1994: Markiewicz S; Subtil A; Dautry-Varsat A; Fischer A; de Saint Basile G
Detection of three nonsense mutations and one missense mutation in the interleukin-2 receptor gamma chain gene in SCIDX1 that differently affect the mRNA processing.
Genomics 1994;21(1):291-3.
1994: DiSanto J P; Markiewicz S; Gauchat J F; Bonnefoy J Y; Fischer A; de Saint Basile G
Brief report: prenatal diagnosis of X-linked hyper-IgM syndrome.
The New England journal of medicine 1994;330(14):969-73.
1994: Di Santo J P; de Saint Basile G; Durandy A; Fischer A
Hyper-IgM syndrome.
Research in immunology 1994;145(3):205-9; discussion 244-9.
1994: DiSanto J P; Dautry-Varsat A; Certain S; Fischer A; de Saint Basile G
Interleukin-2 (IL-2) receptor gamma chain mutations in X-linked severe combined immunodeficiency disease result in the loss of high-affinity IL-2 receptor binding.
European journal of immunology 1994;24(2):475-9.
1993: Stephan J L; Vlekova V; Le Deist F; Blanche S; Donadieu J; De Saint-Basile G; Durandy A; Griscelli C; Fischer A
Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients.
The Journal of pediatrics 1993;123(4):564-72.
1993: Cavazzana-Calvo M; Le Deist F; De Saint Basile G; Papadopoulo D; De Villartay J P; Fischer A
Increased radiosensitivity of granulocyte macrophage colony-forming units and skin fibroblasts in human autosomal recessive severe combined immunodeficiency.
The Journal of clinical investigation 1993;91(3):1214-8.
1993: DiSanto J P; Bonnefoy J Y; Gauchat J F; Fischer A; de Saint Basile G
CD40 ligand mutations in x-linked immunodeficiency with hyper-IgM.
Nature 1993;361(6412):541-3.
1993: Stephan J L; Vlekova V; Le Deist F; De Saint Basile G; Donadieu J; Durandy A; Blanche S; Griscelli C; Fischer A
A retrospective single-center study of clinical presentation and outcome in 117 patients with severe combined immunodeficiency.
Immunodeficiency 1993;4(1-4):87-8.
1993: Durandy A; Brousse N; Rozenberg F; De Saint Basile G; Fischer A M; Fischer A
Control of human B cell tumor growth in SCID mice by monoclonal anti-B cell antibodies.
Immunodeficiency 1993;4(1-4):73-6.
1993: Disanto J P; Le Deist F; Caniglia M; Markiewicz S; Lebranchu Y; Griscelli C; Fischer A; De Saint-Basile G
Variant forms of X-linked severe combined immunodeficiency disease: one or many genes?
Immunodeficiency 1993;4(1-4):253-8.
1992: Durandy A; Brousse N; Rozenberg F; De Saint Basile G; Fischer A M; Fischer A
Control of human B cell tumor growth in severe combined immunodeficiency mice by monoclonal anti-B cell antibodies.
The Journal of clinical investigation 1992;90(3):945-52.
1992: Journet O; Durandy A; Doussau M; Le Deist F; Couvreur J; Griscelli C; Fischer A; de Saint-Basile G
Carrier detection and prenatal diagnosis of X-linked agammaglobulinemia.
American journal of medical genetics 1992;43(5):885-7.
1992: de Saint Basile G; Notarangelo L D; Bonaiti-Pellié C; Doussau M; Prolini O; Craig I W; Ugazio A; Griscelli C; Fischer A
Wiskott-Aldrich syndrome carrier detection with the hypervariable marker M27 beta.
Human genetics 1992;89(2):223-8.
1992: Bertini E; Cusmai R; de Saint Basile G; Le Deist F; Di Capua M; Gaggero D R; Dionisi-Vici C; Santillo C; Caniglia M
Congenital X-linked ataxia, progressive myoclonic encephalopathy, macular degeneration and recurrent infections.
American journal of medical genetics 1992;43(1-2):443-51.
1992: de Saint-Basile G; Le Deist F; Caniglia M; Lebranchu Y; Griscelli C; Fischer A
Genetic study of a new X-linked recessive immunodeficiency syndrome.
The Journal of clinical investigation 1992;89(3):861-6.
1991: de Saint Basile G; Fischer A
X-linked immunodeficiencies: clues to genes involved in T- and B-cell differentiation.
Immunology today 1991;12(12):456-61.
1991: Le Deist F; de Saint Basile G; Mazerolles F; Thoenes G; De Villartay J P; Cerf-Bensussan N; Lisowska-Grospierre B; Griscelli C; Fischer A
Primary membrane T cell immunodeficiencies.
Clinical immunology and immunopathology 1991;61(2 Pt 2):S56-60.
1991: De Saint-Basile G; Schlegel N; Caniglia M; Le Deist F; Kaplan C; Lecompte T; Piller F; Fischer A; Griscelli C
X-linked thrombocytopenia and Wiskott-Aldrich syndrome: similar regional assignment but distinct X-inactivation pattern in carriers.
Annals of hematology 1991;63(2):107-10.
1991: Le Deist F; de Saint Basile G; Coulombel L; Breton-Gorius J; Maier-Redelsperger M; Beljorde K; Bremard C; Griscelli C
A familial occurrence of natural killer cell--T-lymphocyte proliferation disease in two children.
Cancer 1991;67(10):2610-7.
1991: de Saint-Basile G; Le Deist F; de Villartay J P; Cerf-Bensussan N; Journet O; Brousse N; Griscelli C; Fischer A
Restricted heterogeneity of T lymphocytes in combined immunodeficiency with hypereosinophilia (Omenn's syndrome).
The Journal of clinical investigation 1991;87(4):1352-9.
1990: Arveiler B; de Saint-Basile G; Fischer A; Griscelli C; Mandel J L
Germ-line mosaicism simulates genetic heterogeneity in Wiskott-Aldrich syndrome.
American journal of human genetics 1990;46(5):906-11.
1989: Guioli S; Arveiler B; Bardoni B; Notarangelo L D; Panina P; Duse M; Ugazio A; Oberlé I; de Saint Basile G; Mandel J L
Close linkage of probe p212 (DXS178) to X-linked agammaglobulinemia.
Human genetics 1989;84(1):19-21.
1989: de Saint Basile G; Arveiler B; Fraser N J; Boyd Y; Graig I W; Griscelli G; Fischer A
Close linkage of hypervariable marker DXS255 to disease locus of Wiskott-Aldrich syndrome.
Lancet 1989;2(8675):1319-21.
1988: Dimanche-Boitrel M T; Guyot A; De Saint-Basile G; Fischer A; Griscelli C; Lisowska-Grospierre B
Heterogeneity in the molecular defect leading to the leukocyte adhesion deficiency.
European journal of immunology 1988;18(10):1575-9.
1988: de Saint-Basile G; Bohler M C; Fischer A; Cartron J; Dufier J L; Griscelli C; Orkin S H
Xp21 DNA microdeletion in a patient with chronic granulomatous disease, retinitis pigmentosa, and McLeod phenotype.
Human genetics 1988;80(1):85-9.
1987: de Saint Basile G; Arveiler B; Oberlé I; Malcolm S; Levinsky R J; Lau Y L; Hofker M; Debre M; Fischer A; Griscelli C
Close linkage of the locus for X chromosome-linked severe combined immunodeficiency to polymorphic DNA markers in Xq11-q13.
Proceedings of the National Academy of Sciences of the United States of America 1987;84(21):7576-9.
1987: Malcolm S; de Saint Basile G; Arveiler B; Lau Y L; Szabo P; Fischer A; Griscelli C; Debre M; Mandel J L; Callard R E
Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA).
Human genetics 1987;77(2):172-4.

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