Search Results - "Le Deist, F."

Autoimmune lymphoproliferative syndromes: genetic defects of apoptosis pathways by Rieux-Laucat, F, Le Deist, F, Fischer, A

“…Human and mouse natural mutants presenting with lymphoproliferative syndrome and autoimmunity (ALPS) have enlightened the role of the Fas and FasL in…”
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Reconstitution of maturating and regulatory lymphocyte subsets after cord blood and BMT in children by Charrier, E, Cordeiro, P, Brito, R-M, Mezziani, S, Herblot, S, Le Deist, F, Duval, M

“…Some clinical characteristics of cord blood transplantation (CBT) might be explained by specificities in the reconstitution of immune subsets differing by…”
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Impact of HLA matching on outcome of hematopoietic stem cell transplantation in children with inherited diseases: a single-center comparative analysis of genoidentical, haploidentical or unrelated donors by CAILLAT-ZUCMAN, S, LE DEIST, F, CAVAZZANA-CALVO, M, HADDAD, E, GANNAGE, M, DAL CORTIVO, L, JABADO, N, HACEIN-BEY-ABINA, S, BLANCHE, S, CASANOVA, J.-L, FISCHER, A

“…Hematological inherited diseases can be cured by hematopoietic stem cell transplantation (HSCT) from an human leukocyte antigen (HLA)-identical sibling donor…”
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High prevalence of primary immune deficiencies in children with autoimmune disorders by BARSALOU, J, SAINT-CYR, C, DROUIN, E, LE DEIST, F, HADDAD, E

“…Autoimmunity is a well-recognised manifestation of primary immunodeficiency disorders. However, the prevalence of primary immunodeficiency among children with…”
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Impaired Antibody Affinity Maturation Process Characterizes a Subset of Patients with Common Variable Immunodeficiency by Bonhomme, D, Hammarstrom, L, Webster, D, Chapel, H, Hermine, O, Le Deist, F, Lepage, E, Romeo, P. H, Levy, Yves

“…Common variable immunodeficiency (CVID) is an heterogeneous syndrome characterized by decreased levels of serum Ig and recurrent bacterial infection. Here, we…”
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Mutations in the phosphatidylinositol glycan C ( PIGC ) gene are associated with epilepsy and intellectual disability by Edvardson, Simon, Murakami, Yoshiko, Nguyen, Thi Tuyet Mai, Shahrour, Maher, St-Denis, Anik, Shaag, Avraham, Damseh, Nadira, Le Deist, Françoise, Bryceson, Yenan, Abu-Libdeh, Bassam, Campeau, Philippe M, Kinoshita, Taroh, Elpeleg, Orly

“…Of our 1400 exome-studied patients, 67% originate from consanguineous families. ∼80% suffer from variable degree of intellectual disability (ID). The search…”
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Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients by Stephan, J L, Vlekova, V, Le Deist, F, Blanche, S, Donadieu, J, De Saint-Basile, G, Durandy, A, Griscelli, C, Fischer, A

“…We carried out a retrospective analysis of 117 patients with severe combined immunodeficiency who were examined in a single center between Jan. 1, 1970, and…”
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LMO2-Associated Clonal T Cell Proliferation in Two Patients after Gene Therapy for SCID-X1 by S. Hacein-Bey-Abina, Von Kalle, C., Schmidt, M., McCormack, M. P., Wulffraat, N., Leboulch, P., Lim, A., Osborne, C. S., Pawliuk, R., Morillon, E., Sorensen, R., Forster, A., Fraser, P., Cohen, J. I., G. de Saint Basile, Alexander, I., Wintergerst, U., Frebourg, T., Aurias, A., Stoppa-Lyonnet, D., Romana, S., Radford-Weiss, I., Gross, F., Valensi, F., Delabesse, E., Macintyre, E., Sigaux, F., Soulier, J., Leiva, L. E., Wissler, M., Prinz, C., Rabbitts, T. H., Le Deist, F., Fischer, A., Cavazzana-Calvo, M.

“…We have previously shown correction of X-linked severe combined immunodeficiency [SCID-X1, also known as γ chain (γc) deficiency] in 9 out of 10 patients by…”
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Perforin gene defects in familiar hemophagocytic lymphohistiocytosis by Stepp, SE, Dufourcq-Lagelouse, R, Le, Deist F, Bhawan, S, Certain, S, Mathew, PA, Henter, JI, Bennett, M, Fischer, A, Saint, Basile GD

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NATURALLY OCCURRING PRIMARY DEFICIENCIES OF THE IMMUNE SYSTEM by Fischer, A, Cavazzana-Calvo, M, Basile, G. De Saint, DeVillartay, J. P, Di Santo, J. P, Hivroz, C, Rieux-Laucat, F, Le Deist, F

“…Naturally occurring genetic disorders of the immune system provide many models for the study of its development and function. In a way, their analysis…”
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Inactivation of the Fas gene by Alu insertion: retrotransposition in an intron causing splicing variation and autoimmune lymphoproliferative syndrome by Tighe, P J, Stevens, S E, Dempsey, S, Le Deist, F, Rieux-Laucat, F, Edgar, J D M

“…Mutations in the Fas (apo-1, CD95) gene result in autoimmune lymphoproliferative syndrome (ALPS). These mutations are dominated by small deletions and point…”
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Acceptability Conditions for Telemonitoring Gerontechnology in the Elderly by Le Deist, F, Latouille, M

“…Abstract The question of accommodation is crucial for the elderly; most of them wish to stay at home as long as possible [1] . The concept of “living at home”…”
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Coombs’ negative haemolytic anaemia as a first manifestation of autoimmune lymphoproliferative disease by Guitton, C., Le Deist, F., Bader‐Meunier, B.

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Gene therapy of severe combined immunodeficiencies by Cavazzana-Calvo, Marina, Hacein-Bey, Salima, Yates, Frank, de Villartay, J. P., Le Deist, F., Fischer, A.

“…Recent advances in gene transfer in human hematopoietic cells, combined with a better understanding of the genetic aspects of several immunodeficiencies, has…”
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SIAH-1 inhibits cell growth by altering the mitotic process by BRUZZONI-GIOVANELLI, H, FAILLE, A, TELERMAN, A, CALVO, F, LINARES-CRUZ, G, NEMANI, M, LE DEIST, F, GERMANI, A, CHASSOUX, D, MILLOT, G, ROPERCH, J.-P, AMSON, R

“…SIAH-1, the human homologue of the drosophila seven in absentia gene, is a p53-p21Waf-1 inducible gene. We report that stable transfection with SIAH-1 of the…”
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CD40-CD40L Independent Ig Gene Hypermutation Suggests a Second B Cell Diversification Pathway in Humans by Weller, Sandra, Faili, Ahmad, Garcia, Corinne, Braun, Moritz C., Le Deist, Françoise, Geneviève de Saint Basile, Hermine, Olivier, Fischer, Alain, Reynaud, Claude-Agnès, Weill, Jean-Claude

“…Somatically mutated IgM+-only and IgM+IgD+CD27+B lymphocytes comprise ≈25% of the human peripheral B cell pool. These cells phenotypically resemble…”
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Identical mutations in RAG1 or RAG2 genes leading to defective V(D)J recombinase activity can cause either T-B–severe combined immune deficiency or Omenn syndrome by Corneo, Barbara, Moshous, Despina, Güngör, Tayfun, Wulffraat, Nicolas, Philippet, Pierre, Deist, Françoise Le, Fischer, Alain, de Villartay, Jean-Pierre

“…Omenn syndrome (OS) is an inherited disorder characterized by an absence of circulating B cells and an infiltration of the skin and the intestine by activated…”
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Mutation in the Class II trans-Activator Leading to a Mild Immunodeficiency by Wiszniewski, Wojciech, Fondaneche, Marie-Claude, Le Deist, Francoise, Kanariou, Maria, Selz, Francoise, Brousse, Nicole, Steimle, Viktor, Barbieri, Giovanna, Alcaide-Loridan, Catherine, Charron, Dominique, Fischer, Alain, Lisowska-Grospierre, Barbara

“…The expression of MHC class II molecules is essential for all Ag-dependent immune functions and is regulated at the transcriptional level. Four trans-acting…”
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Reduction of Graft Failure by a Monoclonal Antibody (Anti-LFA-1 CD11a) After HLA Nonidentical Bone Marrow Transplantation in Children With Immunodeficiencies, Osteopetrosis, and Fanconi’s Anemia: A European Group for Immunodeficiency/European Group for Bone Marrow Transplantation Report by Fischer, A., Friedrich, W., Fasth, A., Blanche, S., Deist, F. Le, Girault, D., Veber, F., Vossen, J., Lopez, M., Griscelli, C., Hirn, M.

“…Forty-six infants and children suffering from either inherited immunodeficiency disorders (Wiskott-Aldrich syndrome, functional T-cell immunodeficiency with or…”
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Mutations in Fas Associated with Human Lymphoproliferative Syndrome and Autoimmunity by Rieux-Laucat, F., Le Deist, F., Hivroz, C., Roberts, I. A. G., Debatin, K. M., Fischer, A., de Villartay, J. P.

“…Fas (also known as Apo1 and CD95) is a cell surface receptor involved in apoptotic cell death. Fas expression and function were analyzed in three children…”
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