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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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