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Primary hemophagocytic syndromes point to a direct link between lymphocyte cytotoxicity and homeostasisMENASCHE, Gael; FELDMANN, Jérome; FISCHER, Alain et al.Immunological reviews. 2005, Vol 203, pp 165-179, issn 0105-2896, 15 p.Article

ETUDE GENETIQUE, MOLECULAIRE ET FONCTIONNELLE DU SYNDROME DE CHEDIAK-HIGASHI = GENETIC, MOLECULAR AND FUNCTIONAL STUDIES OF THE CHEDIAK-HIGASHI SYNDROMEBarrat, Franck; De Saint Basile, Geneviève.1998, 159 p.Thesis

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A concanavalin A-like lectin domain in the CHS1/LYST protein, shared by members of the BEACH familyBURGESS, Agathe; MORNON, Jean-Paul; DE SAINT-BASILE, Geneviève et al.Bioinformatics (Oxford. Print). 2009, Vol 25, Num 10, pp 1219-1222, issn 1367-4803, 4 p.Article

Défaut d'exocytose des granules lytiques : Plusieurs causes, un même effet = Defect in lytic granule exocytosis : several causes, a same effectMENASCHE, Gaël; MENAGER, Mickaël; LE DEIST, Francoise et al.MS. Médecine sciences. 2006, Vol 22, Num 8-9, pp 733-738, issn 0767-0974, 6 p.Article

Biochemical and functional characterization of Rab27a mutations occurring in Griscelli syndrome patientsMENASCHE, Gaël; FELDMANN, Jérome; HOUDUSSE, Anne et al.Blood. 2003, Vol 101, Num 7, pp 2736-2742, issn 0006-4971, 7 p.Article

Progressive neurologic dysfunctions 20 years after allogeneic bone marrow transplantation for Chediak-Higashi syndromeTARDIEU, Marc; LACROIX, Catherine; NEVEN, Bénédicte et al.Blood. 2005, Vol 106, Num 1, pp 40-42, issn 0006-4971, 3 p.Article

Griscelli disease: Genotype-phenotype correlation in an array of clinical heterogeneitySANAL, Ozden; ERSOY, Fugen; TEZCAN, Ilhan et al.Journal of clinical immunology. 2002, Vol 22, Num 4, pp 237-243, issn 0271-9142Article

Gastric adenocarcinoma in a patient with X-linked agammaglobulinaemiaBACHMEYER, Claude; MONGE, Matthieu; CAZIER, Alain et al.European journal of gastroenterology & hepatology. 2000, Vol 12, Num 9, pp 1033-1035, issn 0954-691XConference Paper

Terminal transport of lytic granules to the immune synapse is mediated by the kinesin-1/Slp3/Rab27a complexKUROWSKA, Mathieu; GOUDIN, Nicolas; NEHME, Nadine T et al.Blood. 2012, Vol 119, Num 17, pp 3879-3889, issn 0006-4971, 11 p.Article

Severe combined immunodeficiency. A model disease for molecular immunology and therapyFISCHER, Alain; LE DEIST, Francoise; HACEIN-BEY-ABINA, Salima et al.Immunological reviews. 2005, Vol 203, pp 98-109, issn 0105-2896, 12 p.Article

Hematopoietic stem cell transplantation in Griscelli syndrome type 2: a single-center report on 10 patientsPACHLOPNIK SCHMID, Jana; MOSHOUS, Despina; BODDAERT, Nathalie et al.Blood. 2009, Vol 114, Num 1, pp 211-218, issn 0006-4971, 8 p.Article

MST1 mutations in autosomal recessive primary immunodeficiency characterized by defective naive T-cell survivalNEHME, Nadine T; PACHLOPNIK SCHMID, Jana; FISCHER, Alain et al.Blood. 2012, Vol 119, Num 15, pp 3458-3468, issn 0006-4971, 11 p.Article

Immune deficiency-related enteropathy-lymphocytopenia-alopecia syndrome results from tetratricopeptide repeat domain 7A deficiencyLEMOINE, Roxane; PACHLOPNIK-SCHMID, Jana; RUEMMELE, Frank et al.Journal of allergy and clinical immunology. 2014, Vol 134, Num 6, pp 1354-1364, issn 0091-6749, 11 p.Article

Inherited defects in lymphocyte cytotoxic activitySCHMID, Jana P; COTE, Marjorie; MENAGER, Mickaël M et al.Immunological reviews. 2010, Vol 235, pp 10-23, issn 0105-2896, 14 p.Article

XIAP deficiency in humans causes an X-linked lymphoproliferative syndromeRIGAUD, Stéphanie; FONDANECHE, Marie-Claude; FISCHER, Alain et al.Nature (London). 2006, Vol 444, Num 7115, pp 110-114, issn 0028-0836, 5 p.Article

Molecular basis of the spectral expression of CIAS1 mutations associated with phagocytic cell-mediated autoinflammatory disorders CINCA/NOMID, MWS, and FCUNEVEN, Bénédicte; CALLEBAUT, Isabelle; OERTLE, Stefan et al.Blood. 2004, Vol 103, Num 7, pp 2809-2815, issn 0006-4971, 7 p.Article

Chronic infantile neurological cutaneous and articular syndrome is caused by mutations in CIAS1, a gene highly expressed in polymorphonuclear cells and chondrocytesFELDMANN, Jérome; PRIEUR, Anne-Marie; QUARTIER, Pierre et al.American journal of human genetics. 2002, Vol 71, Num 1, pp 198-203, issn 0002-9297Article

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, Jana; CANIONI, Danielle; GALICIER, Lionel et al.Blood. 2011, Vol 117, Num 5, pp 1522-1529, issn 0006-4971, 8 p.Article

Spectrum of perforin gene mutations in familial hemophagocytic lymphohistiocytosisERICSON, Kim Göransdotter; FADEEL, Bengt; EGELER, R. Maarten et al.American journal of human genetics. 2001, Vol 68, Num 3, pp 590-597, issn 0002-9297Article

Control of Plasmodium falciparum erythrocytic cycle: γδ T cells target the red blood cell-invasive merozoitesCOSTA, Giulia; LOIZON, Séverine; MERCEREAU-PUIJALON, Odile et al.Blood. 2011, Vol 118, Num 26, pp 6952-6962, issn 0006-4971, 11 p.Article

Long-term survival in severe combined immune deficiency: The role of persistent maternal engraftmentTEZCAN, Ilhan; ERSOY, Fugen; DE SAINT BASILE, Genevieve et al.The Journal of pediatrics. 2005, Vol 146, Num 1, pp 137-140, issn 0022-3476, 4 p.Article

Omenn syndrome in an infant with IL7RA gene mutationGILIANI, Silvia; BONFIM, Carmen; DE SAINT BASILE, Genevieve et al.The Journal of pediatrics. 2006, Vol 148, Num 2, pp 272-274, issn 0022-3476, 3 p.Article