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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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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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001-es BibID:	BIBFORM041850
Első szerző:	Weller, Sandra
Cím:	IgM+IgD+CD27+ B cells are markedly reduced in IRAK-4-, MyD88-, and TIRAP- but not UNC-93B-deficient patients / Sandra Weller, Mélanie Bonnet, Héloise Delagreverie, Laura Israel, Maya Chrabieh, László Maródi, Carlos Rodriguez-Gallego, Ben-Zion Garty, Chaim Roifman, Andrew C. Issekutz, Simona Eva Zitnik, Cyrille Hoarau, Yildiz Camcioglu, Júlia Vasconcelos, Carlos Rodrigo, Peter D. Arkwright, Andrea Cerutti, Eric Meffre, Shen-Ying Zhang, Alexandre Alcais, Anne Puel, Jean-Laurent Casanova, Capucine Picard, Jean-Claude Weill, Claude-Agnes Reynaud
Dátum:	2012
ISSN:	0006-4971
Megjegyzések:	We studied the distribution of peripheral B-cell subsets in patients deficient for key factors of the TLR-signaling pathways (MyD88, TIRAP/MAL, IL-1 receptor-associated kinase 4 [IRAK-4], TLR3, UNC-93B, TRIF). All TLRs, except TLR3, which signals through the TRIF adaptor, require MyD88 and IRAK-4 to mediate their function. TLR4 and the TLR2 heterodimers (with TLR1, TLR6, and possibly TLR10) require in addition the adaptor TIRAP, whereas UNC-93B is needed for the proper localization of intracellular TLR3, TLR7, TLR8, and TLR9. We found that IgM(+)IgD(+)CD27(+) but not switched B cells were strongly reduced in MyD88-, IRAK-4-, and TIRAP-deficient patients. This defect did not appear to be compensated with age. However, somatic hypermutation of Ig genes and heavy-chain CDR3 size distribution of IgM(+)IgD(+)CD27(+) B cells were not affected in these patients. In contrast, the numbers of IgM(+)IgD(+)CD27(+) B cells were normal in the absence of TLR3, TRIF, and UNC-93B, suggesting that UNC-93B-dependent TLRs, and notably TLR9, are dispensable for the presence of this subset in peripheral blood. Interestingly, TLR10 was found to be expressed at greater levels in IgM(+)IgD(+)CD27(+) compared with switched B cells in healthy patients. Hence, we propose a role for TIRAP-dependent TLRs, possibly TLR10 in particular, in the development and/or maintenance of IgM(+)IgD(+)CD27(+) B cells in humans.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban külföldön készült közlemény
Megjelenés:	Blood. - 120 : 25 (2012), p. 4992-5001. -
További szerzők:	Bonnet, Mélanie Delagreverie, Héloise Israel, Laura Chrabieh, Maya Rodriguez-Gallego, Carlos Garty, Ben-Zion Roifman, Chaim Issekutz, Andrew C. Zitnik, Simona Eva Hoarau, Cyrille Camcioglu, Yildiz Vasconcelos, Julia Rodrigo, Carlos Arkwright, Peter D. Cerutti, Andrea Meffre, Eric Zhang, Shen-Ying Alcais, Alexandre Puel, Anne Casanova, Jean-Laurent Picard, Capucine Weill, Jean-Claude Reynaud, Claude-Ágnes Maródi László (1949-) (gyermekgyógyász infektológus, immunológus)
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001-es BibID:	BIBFORM016017
Első szerző:	Woellner, Cristina
Cím:	Mutations in STAT3 and diagnostic guidelines for the Hyper-IgE syndrome / Woellner C., Gertz E. M., Schäffer A. A., Lagos M., Perro M., Glocker E. O., Pietrogrande M. C., Cossu F., Franco J. L., Matamoros N., Pietrucha B., Heropolitanska-Pliszka E., Yeganeh M., Moin M., Espanol T., Ehl S., Gennery A. R., Abinun M., Breborowicz A., Niehues T., Kilic S. S., Junker A., Turvey S. E., Plebani A., Sánchez B., Garty B. Z., Pignata C., Cancrini C., Litzman J., Sanal O., Baumann U., Bacchetta R., Hsu A. P., Davis J. N., Hammarström L., Davies E. G., Eren E., Arkwright P. D., Moilanen J. S., Viemann D., Khan S., Maródi L., Cant A. J., Freeman A. F., Puck J. M., Holland S. M., Grimbacher B.
Dátum:	2010
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Megjelenés:	The Journal of Allergy and Clinical Immunology. - 125 : 2 (2010), p. 424-432. -
További szerzők:	Gertz, E. Michael Schaffer, Alejandro A. Lagos, Macarena Perro, Mario Glocker, Erik-Oliver Pietrogrande, Maria C. Cossu, Fausto Franco, José L. Matamoros, Nuria Pietrucha, Barbara Heropolitanska-Pliszka, Edyta Yeganeh, Mehdi Moin, Mostafa Espanol, Teresa Ehl, Stephan Gennery, Andrew R. Abinun, Mario Breborowicz, Anna Niehues, Tim Kilic, Sara Sebnem Junker, Anne Turvey, Stuart E. Plebani, Alessandro Sanchez, Berta Garty, Ben-Zion Pignata, Claudio Cancrini, Caterina Litzman, Jiri Sanal, Özden Baumann, Ulrich Bacchetta, Rosa Hsu, Amy P. Davis, Joie N. Hammarström, Lennart Davies, Graham Eren, Efrem Arkwright, Peter D. Moilanen, Jukka S. Viemann, Dorothee Khan, Sujoy Maródi László (1949-) (gyermekgyógyász infektológus, immunológus) Cant, Andrew J. Freeman, Alexandra F. Puck, Jennifer M. Holland, Steven M. Grimbacher, Bodo
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