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1.

001-es BibID:BIBFORM005166
Első szerző:Bernuth, Horst von
Cím:Pyogenic bacterial infections in humans with MyD88 deficiency / Horst von Bernuth, Capucine Picard, Zhongbo Jin, Rungnapa Pankla, Hui Xiao, Cheng-Lung Ku, Maya Chrabieh, Imen Ben Mustapha, Pegah Ghandil, Yildiz Camcioglu, Júlia Vasconcelos, Nicolas Sirvent, Margarida Guedes, Artur Bonito Vitor, María José Herrero-Mata, Juan Ignacio Aróstegui, Carlos Rodrigo, Laia Alsina, Estibaliz Ruiz-Ortiz, Manel Juan, Claudia Fortuny, Jordi Yagüe, Jordi Antón, Mariona Pascal, Huey-Hsuan Chang, Lucile Janniere, Yoann Rose, Ben-Zion Garty, Helen Chapel, Andrew Issekutz, László Maródi, Carlos Rodriguez-Gallego, Jacques Banchereau, Laurent Abel, Xiaoxia Li, Damien Chaussabel, Anne Puel, Jean-Laurent Casanova
Dátum:2008
Megjegyzések:MyD88 is a key downstream adapter for most Toll-like receptors (TLRs) and interleukin-1 receptors (IL-1Rs). MyD88 deficiency in mice leads to susceptibility to a broad range of pathogens in experimental settings of infection. We describe a distinct situation in a natural setting of human infection. Nine children with autosomal recessive MyD88 deficiency suffered from life-threatening, often recurrent pyogenic bacterial infections, including invasive pneumococcal disease. However, these patients were otherwise healthy, with normal resistance to other microbes. Their clinical status improved with age, but not due to any cellular leakiness in MyD88 deficiency. The MyD88-dependent TLRs and IL-1Rs are therefore essential for protective immunity to a small number of pyogenic bacteria, but redundant for host defense to most natural infections.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Science. - 321 : 5889 (2008), p. 691-696. -
További szerzők:Picard, Capucine Jin, Zhongbo Pankla, Rungnapa Xiao, Hui Ku, Cheng-Lung Chrabieh, Maya Mustapha, Imen Ben Ghandil, Pegah Camcioglu, Yildiz Vasconcelos, Julia Sirvent, Nicolas Guedes, Margarida Bonito Vitor, Artur Herrero-Mata, María José Aróstegui, Juan Ignacio Rodrigo, Carlos Alsina, Laia Ruiz-Ortiz, Estibaliz Juan, Manel Fortuny, Claudia Yagüe, Jordi Antón, Jordi Pascal, Mariona Chang, Huey-Hsuan Janniere, Lucile Rose, Yoann Garty, Ben-Zion Chapel, Helen Issekutz, Andrew C. Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Rodriguez-Gallego, Carlos Banchereau, Jacques Abel, Laurent Li, Xiaoxia Chaussabel, Damien Puel, Anne Casanova, Jean-Laurent
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2.

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
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3.

001-es BibID:BIBFORM002596
Első szerző:Ku, Cheng-Lung
Cím:Selective predisposition to bacterial infections in IRAK-4-deficient children : IRAK-4-dependent TLRs are otherwise redundant in protective immunity / Cheng-Lung Ku, Horst von Bernuth, Capucine Picard, Shen-Ying Zhang, Huey-Hsuan Chang, Kun Yang, Maya Chrabieh, Andrew C. Issekutz, Coleen K. Cunningham, John Gallin, Steven M. Holland, Chaim Roifman, Stephan Ehl, Joanne Smart, Mimi Tang, Franck J. Barrat, Ofer Levy, Douglas McDonald, Noorbibi K. Day-Good, Richard Miller, Hidetoshi Takada, Toshiro Hara, Sami Al-Hajjar, Abdulaziz Al-Ghonaium, David Speert, Damien Sanlaville, Xiaoxia Li, Frédéric Geissmann, Eric Vivier, László Maródi, Ben-Zion Garty, Helen Chapel, Carlos Rodriguez-Gallego, Xavier Bossuyt, Laurent Abel, Anne Puel, Jean-Laurent Casanova
Dátum:2007
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:The Journal of Experimental Medicine. - 204 : 10 (2007), p. 2407-2422. -
További szerzők:Bernuth, Horst von Picard, Capucine Zhang, Shen-Ying Chang, Huey-Hsuan Yang, Kun Chrabieh, Maya Issekutz, Andrew C. Cunningham, Coleen K. Gallin, John Holland, Steven M. Roifman, Chaim Ehl, Stephan Smart, Joanne Tang, Mimi Barrat, Franck J. Levy, Ofer McDonald, Douglas Day-Good, Noorbibi K. Miller, Richard Takada, Hidetoshi Hara, Toshiro Al-Hajjar, Sami Al-Ghonaium, Abdulaziz Speert, David Sanlaville, Damien Li, Xiaoxia Geissmann, Frédéric Vivier, Eric Garty, Ben-Zion Chapel, Helen Rodriguez-Gallego, Carlos Bossuyt, Xavier Abel, Laurent Puel, Anne Casanova, Jean-Laurent Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
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4.

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
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5.

001-es BibID:BIBFORM013546
Első szerző:Picard, Capucine
Cím:Clinical features and outcome of patients with IRAK-4 and MyD88 deficiency / Capucine Picard, Horst von Bernuth, Pegah Ghandil, Maya Chrabieh,Ofer Levy, Peter D. Arkwright, Douglas McDonald, Raif S. Geha,Hidetoshi Takada, Jens C. Krause, C. Buddy Creech, Cheng-Lung Ku, Stephan Ehl, László Maródi, Saleh Al-Muhsen, Sami Al-Hajjar, Abdulaziz Al-Ghonaium, Noorbibi K. Day-Good, Steven M. Holland, John I. Gallin,Helen Chapel, David P. Speert, Carlos Rodriguez-Gallego, Elena Colino, Ben-Zion Garty, Chaim Roifman, Toshiro Hara, Hideto Yoshikawa, Shigeaki Nonoyama, Joseph Domachowske, Andrew C. Issekutz, Mimi Tang, Joanne Smart, Simona Eva Zitnik, Cyrille Hoarau, Dinakantha S. Kumararatne, Adrian J. Thrasher, E. Graham Davies, Claire Bethune, Nicolas Sirvent, Dominique de Ricaud, Yildiz Camcioglu, Júlia Vasconcelos, Margarida Guedes, Artur Bonito Vitor, Carlos Rodrigo, Francisco Almazán, Maria Méndez, Juan Ignacio Aróstegui, Laia Alsina, Claudia Fortuny, Janine Reichenbach, James W. Verbsky, Xavier Bossuyt, Rainer Doffinger, Laurent Abel, Anne Puel, and Jean-Laurent Casanova
Dátum:2010
ISSN:0025-7974
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:Medicine. - 89 : 6 (2010), p. 403-425. -
További szerzők:Bernuth, Horst von Ghandil, Pegah Chrabieh, Maya Levy, Ofer Arkwright, Peter D. McDonald, Douglas Geha, Raif S. Takada, Hidetoshi Krause, Jens Creech, C. Buddy Ku, Cheng-Lung Ehl, Stephan Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Al-Muhsen, Saleh Al-Hajjar, Sami Al-Ghonaium, Abdulaziz Day-Good, Noorbibi K. Holland, Steven M. Gallin, John Chapel, Helen Speert, David Rodriguez-Gallego, Carlos Colino, Elena Garty, Ben-Zion Roifman, Chaim Hara, Toshiro Yoshikawa, Hideto Nonoyama, Shigeaki Domachowske, Joseph Issekutz, Andrew C. Tang, Mimi Smart, Joanne Zitnik, Simona Eva Hoarau, Cyrille Kumararatne, Dinakantha S. Thrasher, Adrian J. Davies, Graham Bethune, Claire Sirvent, Nicolas de Ricaud, Dominique Camcioglu, Yildiz Vasconcelos, Julia Guedes, Margarida Bonito Vitor, Artur Rodrigo, Carlos Almazán, Francisco Méndez, Maria Aróstegui, Juan Ignacio Alsina, Laia Fortuny, Claudia Reichenbach, Jeanine Verbsky, James W. Bossuyt, Xavier Doffinger, Rainer Abel, Laurent Puel, Anne Casanova, Jean-Laurent
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6.

001-es BibID:BIBFORM041846
035-os BibID:PMID:23026768
Első szerző:Puel, Anne
Cím:Inborn errors of human IL-17 immunity underlie chronic mucocutaneous candidiasis / Anne Puel, Sophie Cypowyj, László Maródi, Laurent Abel, Capucine Picard, Jean-Laurent Casanova
Dátum:2012
Megjegyzések:Chronic mucocutaneous candidiasis (CMC) is characterized by recurrent or persistent symptomatic infection of the nails, skin and mucosae mostly by Candida albicans. CMC is common in patients with profound primary T-cell immunodeficiency, who often display multiple infectious and autoimmune diseases. Patients with syndromic CMC, including autosomal dominant hyper IgE syndrome (AD-HIES) and autosomal recessive autoimmune polyendocrinopathy syndrome type I (APS-I), display fewer other infections. Patients with isolated CMC (CMCD) rarely display any other severe disease. We review here recent progress in the genetic dissection of these three types of inherited CMC. RECENT FINDINGS: Low IL-17 T-cell proportions were reported in patients with AD-HIES bearing heterozygous STAT3 mutations, prone to CMC and staphylococcal diseases, and in a kindred with autosomal recessive CARD9 deficiency, prone to CMC and other fungal infections. High levels of neutralizing autoantibodies against IL-17 cytokines were documented in patients with APS-I presenting with CMC as their only infectious disease. The first three genetic causes of CMCD were then reported: autosomal recessive IL-17RA and autosomal dominant IL-17F deficiencies and autosomal dominant STAT1 gain-of-function, impairing IL-17-producing T-cell development. SUMMARY: Inborn errors of human IL-17 immunity underlie CMC. Impaired IL-17 immunity may therefore account for CMC in other settings, including patients with acquired immunodeficiency.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény hazai lapban
külföldön készült közlemény
Megjelenés:Current Opinion in Allergy and Clinical Immunology. - 12 : 6 (2012), p. 616-622. -
További szerzők:Cypowyj, Sophie Abel, Laurent Picard, Capucine Casanova, Jean-Laurent Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
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7.

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
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