CCL

Összesen 5 találat.
#/oldal:
Részletezés:
Rendezés:

1.

001-es BibID:BIBFORM005160
Első szerző:de Beaucoudrey, Ludovic
Cím:Mutations in STAT3 and IL12RB1 impair the development of human IL-17 producing T cells / Ludovic de Beaucoudrey, Anne Puel, Orchidée Filipe-Santos, Aurélie Cobat, Pegah Ghandil, Maya Chrabieh, Jacqueline Feinberg, Horst von Bernuth, Arina Samarina, Lucile Janniere, Claire Fieschi, Jean-Louis Stéphan, Catherine Boileau, Stanislas Lyonnet, Guillaume Jondeau, Valérie Cormier-Daire, Martine Le Merrer, Cyrille Hoarau, Yvon Lebranchu, Olivier Lortholary, Marie-Olivia Chandesris, Francois Tron, Eleonora Gambineri, Lucia Bianchi, Carlos Rodriguez-Gallego, Simona E. Zitnik, Julia Vasconcelos, Margarida Guedes, Artur Bonito Vitor, Laszlo Marodi, Helen Chapel, Brenda Reid, Chaim Roifman, David Nadal, Janine Reichenbach, Isabel Caragol, Ben-Zion Garty, Figen Dogu, Yildiz Camcioglu, Sanyie Gülle, Ozden Sanal, Alain Fischer, Laurent Abel, Birgitta Stockinger, Capucine Picard, and Jean-Laurent Casanova
Dátum:2008
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:The Journal of Experimental Medicine. - 205 : 7 (2008), p. 1543-1550. -
További szerzők:Puel, Anne Filipe-Santos, Orchidée Cobat, Aurélie Ghandil, Pegah Chrabieh, Maya Feinberg, Jacqueline Bernuth, Horst von Samarina, Arina Janniere, Lucile Fieschi, Claire Stéphan, Jean-Louis Boileau, Catherine Lyonnet, Stanislas Jondeau, Guillaume Cormier-Daire, Valérie Le Merrer, Martine Hoarau, Cyrille Lebranchu, Yvon Lortholary, Olivier Chandesris, Marie-Olivia Tron, François Gambineri, Eleonora Bianchi, Lucia Rodriguez-Gallego, Carlos Zitnik, Simona Eva Vasconcelos, Julia Guedes, Margarida Bonito Vitor, Artur Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Chapel, Helen Reid, Brenda Roifman, Chaim Nadal, David Reichenbach, Jeanine Caragol, Isabel Garty, Ben-Zion Dogu, Figen Camcioglu, Yildiz Gülle, Sanyie Sanal, Özden Fischer, Alain Abel, Laurent Stockinger, Birgitta Picard, Capucine Casanova, Jean-Laurent
Internet cím:elektronikus változat
Borító:

2.

001-es BibID:BIBFORM016238
Első szerző:Imai, Kohsuke
Cím:Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-swith recombination / Kohsuke Imai, Nadia Catalan, Alessandro Plebani, László Maródi, Özden Sanal, Satoru Kumaki, Vasantha Nagendran, Philip Wood, Catherine Glastre, Françoise Sarrot-Reynauld, Olivier Hermine, Monique Forveille, Patrick Revy, Alain Fischer, Anne Durandy
Dátum:2003
Megjegyzések:Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome - which affect the CD40 ligand in HIGM type 1 (HIGM1), CD40 in HIGM3, and activation-induced cytidine deaminase (AID) in HIGM2 - do not account for all cases. We investigated the clinical and immunological characteristics of 15 patients with an unidentified form of HIGM. Although the clinical manifestations were similar to those observed in HIGM2, these patients exhibited a slightly milder HIGM syndrome with residual IgG production. We found that B cell CSR was intrinsically impaired. However, the generation of somatic hypermutations was observed in the variable region of the Ig heavy chain gene, as in control B lymphocytes. In vitro studies showed that the molecular defect responsible for this new HIGM entity (HIGM4) occurs downstream of the AID activity, as the AID gene was induced normally and AID-induced DNA double-strand breaks in the switch micro region of the Ig heavy chain locus were detected during CSR as normal. Thus, HIGM4 is probably the consequence of a selective defect either in a CSR-specific factor of the DNA repair machinery or in survival signals delivered to switched B cells.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:The Journal of Clinical Investigation. - 112 : 1 (2003), p. 136-142. -
További szerzők:Catalan, Nadia Plebani, Alessandro Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Sanal, Özden Kumaki, Satoru Nagendran, Vasantha Wood, Philip Glastre, Catherine Sarrot-Reynauld, Francoise Hermine, Olivier Forveille, Monique Revy, Patrick Fischer, Alain Durandy, Anne
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:

3.

001-es BibID:BIBFORM028227
Első szerző:Liu, Luyan
Cím:Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis / Luyan Liu, Satoshi Okada, Xiao-Fei Kong, Alexandra Y. Kreins, Sophie Cypowyj, Avinash Abhyankar, Julie Toubiana, Yuval Itan, Magali Audry, Patrick Nitschke, Cécile Masson, Beata Toth, Jérome Flatot, Mélanie Migaud, Maya Chrabieh, Tatiana Kochetkov, Alexandre Bolze, Alessandro Borghesi, Antoine Toulon, Julia Hiller, Stefanie Eyerich, Kilian Eyerich, Vera Gulácsy, Liudmyla Chernyshova, Viktor Chernyshov, Anastasia Bondarenko, Rosa María Cortés Grimaldo, Lizbeth Blancas-Galicia, Ileana Maria Madrigal Beas, Joachim Roesler, Klaus Magdorf, Dan Engelhard, Caroline Thumerelle, Pierre-Régis Burgel, Miriam Hoernes, Barbara Drexel, Reinhard Seger, Theresia Kusuma, Annette F. Jansson, Julie Sawalle-Belohradsky, Bernd Belohradsky, Emmanuelle Jouanguy, Jacinta Bustamante, Mélanie Bué, Nathan Karin, Gizi Wildbaum, Christine Bodemer, Olivier Lortholary, Alain Fischer, Stéphane Blanche, Saleh Al-Muhsen, Janine Reichenbach, Masao Kobayashi, Francisco Espinosa Rosales, Carlos Torres Lozano, Sara Sebnem Kilic, Matias Oleastro, Amos Etzioni, Claudia Traidl-Hoffmann, Ellen D. Renner, Laurent Abel, Capucine Picard, László Maródi, Stéphanie Boisson-Dupuis, Anne Puel, Jean-Laurent Casanova
Dátum:2011
Megjegyzések:Chronic mucocutaneous candidiasis disease (CMCD) may be caused by autosomal dominant (AD) IL-17F deficiency or autosomal recessive (AR) IL-17RA deficiency. Here, using whole-exome sequencing, we identified heterozygous germline mutations in STAT1 in 47 patients from 20 kindreds with AD CMCD. Previously described heterozygous STAT1 mutant alleles are loss-of-function and cause AD predisposition to mycobacterial disease caused by impaired STAT1-dependent cellular responses to IFN-γ. Other loss-of-function STAT1 alleles cause AR predisposition to intracellular bacterial and viral diseases, caused by impaired STAT1-dependent responses to IFN-α/β, IFN-γ, IFN-?, and IL-27. In contrast, the 12 AD CMCD-inducing STAT1 mutant alleles described here are gain-of-function and increase STAT1-dependent cellular responses to these cytokines, and to cytokines that predominantly activate STAT3, such as IL-6 and IL-21. All of these mutations affect the coiled-coil domain and impair the nuclear dephosphorylation of activated STAT1, accounting for their gain-of-function and dominance. Stronger cellular responses to the STAT1-dependent IL-17 inhibitors IFN-α/β, IFN-γ, and IL-27, and stronger STAT1 activation in response to the STAT3-dependent IL-17 inducers IL-6 and IL-21, hinder the development of T cells producing IL-17A, IL-17F, and IL-22. Gain-of-function STAT1 alleles therefore cause AD CMCD by impairing IL-17 immunity.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Molekuláris Medicina
Megjelenés:The Journal of Experimental Medicine 208 : 8 (2011), p. 1635-1648. -
További szerzők:Okada, Satoshi Kong, Xiao-Fei Kreins, Alexandra Y. Cypowyj, Sophie Abhyankar, Avinash Toubiana, Julie Itan, Yuval Audry, Magali Nitschke, Patrick Masson, Cécile Lajszné Tóth Beáta (1978-) (molekuláris biológus) Flatot, Jérome Migaud, Mélanie Chrabieh, Maya Kochetkov, Tatiana Bolze, Alexandre Borghesi, Alessandro Toulon, Antoine Hiller, Julia Eyerich, Stefanie Eyerich, Kilian Gulácsy Vera (1982-) (infektológus) Chernyshova, Liudmyla Chernyshov, Viktor Bondarenko, Anastasia Cortés Grimaldo, Rosa María Blancas-Galicia, Lizbeth Madrigal Beas, Ileana Maria Roesler, Joachim Magdorf, Klaus Engelhard, Dan Thumerelle, Caroline Burgel, Pierre-Régis Hoernes, Miriam Drexel, Barbara Seger, Reinhard Kusuma, Theresia Jansson, Annette F. Sawalle-Belohradsky, Julie Belohradsky, Bernd Jouanguy, Emmanuelle Bustamante, Jacinta Bué, Mélanie Karin, Nathan Wildbaum, Gizi Bodemer, Christine Lortholary, Olivier Fischer, Alain Blanche, Stéphane Al-Muhsen, Saleh Reichenbach, Jeanine Kobayashi, Masao Espinosa Rosales, Francisco Lozano, Carlos Torres Sebnem Kilic, Sara Matias, Oleastro Etzioni, Amos Traidl-Hoffmann, Claudia Renner, Ellen D. Abel, Laurent Picard, Capucine Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Boisson-Dupuis, Stéphanie Puel, Anne Jean-Laurent Casanova
Pályázati támogatás:TÁMOP-4.2.1./B-09/1/KONV-2010-0007
TÁMOP
TÁMOP-4.2.1/B-09/1/KONV-2010-0007
TÁMOP
Célzott génszekvenálás és a génterápia feltételeinek megteremtése néhány primer immundefektusban
TÁMOP-4.2.2/08/1/2008-0015
TÁMOP
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:

4.

001-es BibID:BIBFORM002517
Első szerző:Péron, Sophie
Cím:A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair / Sophie Péron, Qiang Pan-Hammarström, Kohsuke Imai, Likun Du, Nadine Taubenheim, Ozden Sanal, Laszlo Marodi, Anne Bergelin-Besancon, Malika Benkerrou, Jean-Pierre de Villartay, Alain Fischer, Patrick Revy, Anne Durandy
Dátum:2007
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:The Journal of experimental medicine. - 204 : 5 (2007), p. 1207-1216. -
További szerzők:Pan-Hammarström, Qiang Imai, Kohsuke Du, Likun Taubenheim, Nadine Sanal, Özden Bergelin-Besancon, Anne Benkerrou, Malika de Villartay, Jean-Pierre Fischer, Alain Revy, Patrick Durandy, Anne Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
Internet cím:elektronikus változat
DOI
Borító:

5.

001-es BibID:BIBFORM013867
Első szerző:Puel, Anne
Cím:Autoantibodies against to IL-17A, IL-17F and IL-22 in patients with chronic mucocutaneous candidiasis and autoimmune polyendocrine syndrome type I / Anne Puel, Rainer Döffinger, Angels Natividad, Maya Chrabieh, Gabriela Barcenas-Morales, Capucine Picard, Aurélie Cobat, Marie Ouachée-Chardin, Antoine Toulon, Jacinta Bustamante, Saleh Al-Muhsen, Mohammed Al-Owain, Peter D. Arkwright, Colm Costigan, Vivienne McConnell, Andrew J. Cant, Mario Abinun, Michel Polak, Pierre-Francois Bougneres, Dinakantha Kumararatne, László Marodi, Amit Nahum, Chaim Roifman, Stéphane Blanche, Alain Fischer, Christine Bodemer, Laurent Abel, Desa Lilic, Jean-Laurent Casanova
Dátum:2010
ISSN:0022-1007
Megjegyzések:Most patients with autoimmune polyendocrine syndrome type I (APS-I) display chronic mucocutaneous candidiasis (CMC). We hypothesized that this CMC might result from autoimmunity to interleukin (IL)-17 cytokines. We found high titers of autoantibodies (auto-Abs) against IL-17A, IL-17F, and/or IL-22 in the sera of all 33 patients tested, as detected by multiplex particle-based flow cytometry. The auto-Abs against IL-17A, IL-17F, and IL-22 were specific in the five patients tested, as shown by Western blotting. The auto-Abs against IL-17A were neutralizing in the only patient tested, as shown by bioassays of IL-17A activity. None of the 37 healthy controls and none of the 103 patients with other autoimmune disorders tested had such auto-Abs. None of the patients with APS-I had auto-Abs against cytokines previously shown to cause other welldefined clinical syndromes in other patients (IL-6, interferon [IFN]-gamma, or granulocyte/macrophage colony-stimulating factor) or against other cytokines (IL-1beta, IL-10, IL-12, IL-18, IL-21, IL-23, IL-26, IFN-beta, tumor necrosis factor [alfa], or transforming growth factor beta). These findings suggest that auto-Abs against IL-17A, IL-17F, and IL-22 may cause CMC in patients with APS-I.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Journal of Experimental Medicine. - 207 : 2 (2010), p. 291-297. -
További szerzők:Döffinger, Rainer Natividad, Angels Chrabieh, Maya Barcenas-Morales, Gabriela Picard, Capucine Cobat, Aurélie Ouachée-Chardin, Marie Toulon, Antoine Bustamante, Jacinta Al-Muhsen, Saleh Al-Owain, Mohammed Arkwright, Peter D. Costigan, Colm McConnell, Vivienne Cant, Andrew J. Abinun, Mario Polak, Michel Bougnéres, Pierre-Francois Kumararatne, Dinakantha S. Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Nahum, Amit Roifman, Chaim Blanche, Stéphane Fischer, Alain Bodemer, Christine Abel, Laurent Lilic, Desa Casanova, Jean-Laurent
Internet cím:Intézményi repozitóriumban (DEA) tárolt változat
DOI
Borító:
Rekordok letöltése1 
Corvina könyvtári katalógus v8.2.27 © 2023 Monguz kft. Minden jog fenntartva.