Zobrazeno 1 - 10
of 50
pro vyhledávání: '"F, Ledeist"'
Publikováno v:
Archives de Pédiatrie. 13:367-370
Defective apoptosis caused by mutations of the Fas gene can lead to an autoimmune lymphoproliferative syndrome (ALPS). The main autoimmune manifestations are haematological: hemolytic anemia, thrombocytopenia and neutropenia. We described 3 patients
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::08a1f65b2c2bb51379c1b1cd0881fb23
https://doi.org/10.1016/j.arcped.2006.01.012
https://doi.org/10.1016/j.arcped.2006.01.012
Autor:
F Mielot, Gil Tchernia, F Ledeist, Frédéric Rieux-Laucat, J Yvart, Brigitte Bader-Meunier, Jean-Paul Dommergues, Laure Croisille
Publikováno v:
British Journal of Haematology. 108:300-304
Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::b73dd89bc32f054efa0224817ae0cace
https://doi.org/10.1046/j.1365-2141.2000.01862.x
https://doi.org/10.1046/j.1365-2141.2000.01862.x
Autor:
B, Bader-Meunier, F, Rieux-Laucat, L, Croisille, J, Yvart, F, Mielot, J P, Dommergues, F, Ledeist, G, Tchernia
Publikováno v:
British journal of haematology. 108(2)
Defective lymphocyte apoptosis caused by mutations of the Fas gene can result in an autoimmune lymphoproliferative syndrome (ALPS) in humans. We report two cases of dyserythropoiesis associated with a Fas-deficient condition in childhood. In both cas
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::10506f9348d37e2ad11617ebf8bc9f23
https://pubmed.ncbi.nlm.nih.gov/10691859
https://pubmed.ncbi.nlm.nih.gov/10691859
Autor:
G. de Saint-Basile, Eric Meffre, M Fougereau, Claudine Schiff, Alain Fischer, F LeDeist, A Deville
Publikováno v:
Immunology letters. 57(1-3)
We report a detailed comparison of B cell defects in two patients, one XLA and one non-XLA. Both had severe agammaglobulinemia with a total absence of CD19+ cells in the periphery. In the non-XLA case, CD19 expression was also highly impaired in the
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::30ad99a569d01cf0399e75ee0f784262
https://pubmed.ncbi.nlm.nih.gov/9232432
https://pubmed.ncbi.nlm.nih.gov/9232432
Autor:
S, Demczuk, C, Desmaze, M, Aikem, M, Prieur, F, Ledeist, M, Sanson, G, Rouleau, G, Thomas, A, Aurias
Publikováno v:
Annales de genetique. 37(2)
The authors have studied a series of 23 DiGeorge syndrome patients by prometaphase chromosome analysis and/or by FISH with a set of 6 cosmid probes spanning the previously described commonly deleted region. Four patients display a cytogenetically vis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::49581d2afd94f9108268b128e819b354
https://pubmed.ncbi.nlm.nih.gov/7985979
https://pubmed.ncbi.nlm.nih.gov/7985979
Publikováno v:
Journal of medical genetics. 29(2)
The rare autosomal recessive Nijmegen breakage syndrome is characterised by severe immunodeficiency, microcephaly associated with mental retardation, and typical chromosomal rearrangements in peripheral T lymphocytes. This syndrome, though similar to
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5b397292d7b078d20b88923a8b9cfd22
https://pubmed.ncbi.nlm.nih.gov/1613764
https://pubmed.ncbi.nlm.nih.gov/1613764
Autor:
Agnès Rötig, F Ledeist, Alain Fischer, V Cormier, Norma B. Romero, Jacques Schmitz, Jean-Paul Bonnefont, J. M. Saudubray, Stéphane Blanche, Pierre Rustin
Pearson's marrow-pancreas syndrome (McKusick No. 26056) is a fatal disorder of hitherto unknown etiology involving the hematopoietic system, exocrine pancreas, liver, and kidneys. The observation of high lactate/pyruvate molar ratios in plasma and ab
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::fd2a0400104c25e30ac516e6ec2f898d
https://europepmc.org/articles/PMC296909/
https://europepmc.org/articles/PMC296909/
Autor:
Eric Meffre, M Fougereau, G de Saint-Basile, A Fischer, Claudine Schiff, F LeDeist, A Deville
Publikováno v:
Immunology Letters. 56:221
We report a detailed analysis of a B cell defect affecting a patient girl born from first cousin parents, characterized by a severe non-X-linked agammaglobulinemia with a total absence of CD19- cells in the periphery. In the bone marrow, CD19 express
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f905e02f74b14c2e07e4eeafa0555b17
https://doi.org/10.1016/s0165-2478(97)85883-x
https://doi.org/10.1016/s0165-2478(97)85883-x
Akademický článek
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Autor:
Y, de Prost, A, Fischer, L, Boccon-Gibod, M, Larrègue, F, Ledeist, J F, Mougenot, C, Griscelli
Publikováno v:
Annales de dermatologie et de venereologie. 110(9)
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=pmid________::05536d6e13c495baaea0a738730f9780
https://pubmed.ncbi.nlm.nih.gov/6660785
https://pubmed.ncbi.nlm.nih.gov/6660785