Literature DB >> 24335902

IL-17 T cells' defective differentiation in vitro despite normal range ex vivo in chronic mucocutaneous candidiasis due to STAT1 mutation.

Najla Mekki1, Imen Ben-Mustapha1, Luyan Liu2, Lobna Boussofara3, Satoshi Okada4, Sophie Cypowyj4, Najet Ghariani3, Wafa Saidi3, Mohamed Denguezli3, Jean-Laurent Casanova5, Anne Puel2, Mohamed-Ridha Barbouche6.   

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Year:  2013        PMID： 24335902     DOI： 10.1038/jid.2013.480

Source DB:  PubMed          Journal:  J Invest Dermatol        ISSN： 0022-202X            Impact factor:   8.551


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  12 in total

1.  Chronic mucocutaneous candidiasis caused by a gain-of-function mutation in the STAT1 DNA-binding domain.

Authors:  Shunichiro Takezaki; Masafumi Yamada; Masahiko Kato; Myoung-Ja Park; Kenichi Maruyama; Yasuhiro Yamazaki; Natsuko Chida; Osamu Ohara; Ichiro Kobayashi; Tadashi Ariga
Journal:  J Immunol       Date:  2012-06-22       Impact factor: 5.422

2.  Herpes in STAT1 gain-of-function mutation [corrected].

Authors:  Beáta Tóth; Leonóra Méhes; Szilvia Taskó; Zsuzsanna Szalai; Zsolt Tulassay; Sophie Cypowyj; Jean-Laurent Casanova; Anne Puel; László Maródi
Journal:  Lancet       Date:  2012-06-30       Impact factor: 79.321

3.  Chronic mucocutaneous candidiasis in humans with inborn errors of interleukin-17 immunity.

Authors:  Anne Puel; Sophie Cypowyj; Jacinta Bustamante; Jill F Wright; Luyan Liu; Hye Kyung Lim; Mélanie Migaud; Laura Israel; Maya Chrabieh; Magali Audry; Matthew Gumbleton; Antoine Toulon; Christine Bodemer; Jamila El-Baghdadi; Matthew Whitters; Theresa Paradis; Jonathan Brooks; Mary Collins; Neil M Wolfman; Saleh Al-Muhsen; Miguel Galicchio; Laurent Abel; Capucine Picard; Jean-Laurent Casanova
Journal:  Science       Date:  2011-02-24       Impact factor: 47.728

Review 4.  Chronic mucocutaneous candidiasis.

Authors:  C H Kirkpatrick
Journal:  Pediatr Infect Dis J       Date:  2001-02       Impact factor: 2.129

5.  STAT1 mutations in autosomal dominant chronic mucocutaneous candidiasis.

Authors:  Frank L van de Veerdonk; Theo S Plantinga; Alexander Hoischen; Sanne P Smeekens; Leo A B Joosten; Christian Gilissen; Peer Arts; Diana C Rosentul; Andrew J Carmichael; Chantal A A Smits-van der Graaf; Bart Jan Kullberg; Jos W M van der Meer; Desa Lilic; Joris A Veltman; Mihai G Netea
Journal:  N Engl J Med       Date:  2011-06-29       Impact factor: 91.245

6.  Heterozygosity for the Y701C STAT1 mutation in a multiplex kindred with multifocal osteomyelitis.

Authors:  Osamu Hirata; Satoshi Okada; Miyuki Tsumura; Reiko Kagawa; Mizuka Miki; Hiroshi Kawaguchi; Kazuhiro Nakamura; Stéphanie Boisson-Dupuis; Jean-Laurent Casanova; Yoshihiro Takihara; Masao Kobayashi
Journal:  Haematologica       Date:  2013-04-12       Impact factor: 9.941

7.  Autosomal-dominant chronic mucocutaneous candidiasis with STAT1-mutation can be complicated with chronic active hepatitis and hypothyroidism.

Authors:  Tomohiro Hori; Hidenori Ohnishi; Takahide Teramoto; Kohji Tsubouchi; Takafumi Naiki; Yoshinobu Hirose; Osamu Ohara; Mariko Seishima; Hideo Kaneko; Toshiyuki Fukao; Naomi Kondo
Journal:  J Clin Immunol       Date:  2012-07-31       Impact factor: 8.317

8.  Exome sequencing reveals a signal transducer and activator of transcription 1 (STAT1) mutation in a child with recalcitrant cutaneous fusariosis.

Authors:  Xiaowen Wang; Zhimiao Lin; Lujuan Gao; Aiping Wang; Zhe Wan; Wei Chen; Yong Yang; Ruoyu Li
Journal:  J Allergy Clin Immunol       Date:  2012-12-14       Impact factor: 10.793

9.  Gain-of-function human STAT1 mutations impair IL-17 immunity and underlie chronic mucocutaneous candidiasis.

Authors:  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; Ludmyla 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
Journal:  J Exp Med       Date:  2011-07-04       Impact factor: 14.307

10.  New and recurrent gain-of-function STAT1 mutations in patients with chronic mucocutaneous candidiasis from Eastern and Central Europe.

Authors:  Beáta Soltész; Beáta Tóth; Nadejda Shabashova; Anastasia Bondarenko; Satoshi Okada; Sophie Cypowyj; Avinash Abhyankar; Gabriella Csorba; Szilvia Taskó; Adrien Katalin Sarkadi; Leonóra Méhes; Pavel Rozsíval; David Neumann; Liudmyla Chernyshova; Zsolt Tulassay; Anne Puel; Jean-Laurent Casanova; Anna Sediva; Jiri Litzman; László Maródi
Journal:  J Med Genet       Date:  2013-05-24       Impact factor: 6.318
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  11 in total

Review 1.  Immunological loss-of-function due to genetic gain-of-function in humans: autosomal dominance of the third kind.

Authors:  Bertrand Boisson; Pierre Quartier; Jean-Laurent Casanova
Journal:  Curr Opin Immunol       Date:  2015-01-31       Impact factor: 7.486

2.  Genetic Predictors of Susceptibility to Dermatophytoses.

Authors:  Susan M Abdel-Rahman
Journal:  Mycopathologia       Date:  2016-08-08       Impact factor: 2.574

3.  Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.

Authors:  Reiko Kagawa; Ryoji Fujiki; Miyuki Tsumura; Sonoko Sakata; Shiho Nishimura; Yuval Itan; Xiao-Fei Kong; Zenichiro Kato; Hidenori Ohnishi; Osamu Hirata; Satoshi Saito; Maiko Ikeda; Jamila El Baghdadi; Aziz Bousfiha; Kaori Fujiwara; Matias Oleastro; Judith Yancoski; Laura Perez; Silvia Danielian; Fatima Ailal; Hidetoshi Takada; Toshiro Hara; Anne Puel; Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jean-Laurent Casanova; Osamu Ohara; Satoshi Okada; Masao Kobayashi
Journal:  J Allergy Clin Immunol       Date:  2016-12-20       Impact factor: 10.793

Review 4.  Mendelian susceptibility to mycobacterial disease: genetic, immunological, and clinical features of inborn errors of IFN-γ immunity.

Authors:  Jacinta Bustamante; Stéphanie Boisson-Dupuis; Laurent Abel; Jean-Laurent Casanova
Journal:  Semin Immunol       Date:  2014-10-26       Impact factor: 11.130

Review 5.  Human STAT1 Gain-of-Function Heterozygous Mutations: Chronic Mucocutaneous Candidiasis and Type I Interferonopathy.

Authors:  Satoshi Okada; Takaki Asano; Kunihiko Moriya; Stephanie Boisson-Dupuis; Masao Kobayashi; Jean-Laurent Casanova; Anne Puel
Journal:  J Clin Immunol       Date:  2020-08-27       Impact factor: 8.317

6.  Heterozygous STAT1 gain-of-function mutations underlie an unexpectedly broad clinical phenotype.

Authors:  Julie Toubiana; Satoshi Okada; Julia Hiller; Matias Oleastro; Macarena Lagos Gomez; Juan Carlos Aldave Becerra; Marie Ouachée-Chardin; Fanny Fouyssac; Katta Mohan Girisha; Amos Etzioni; Joris Van Montfrans; Yildiz Camcioglu; Leigh Ann Kerns; Bernd Belohradsky; Stéphane Blanche; Aziz Bousfiha; Carlos Rodriguez-Gallego; Isabelle Meyts; Kai Kisand; Janine Reichenbach; Ellen D Renner; Sergio Rosenzweig; Bodo Grimbacher; Frank L van de Veerdonk; Claudia Traidl-Hoffmann; Capucine Picard; Laszlo Marodi; Tomohiro Morio; Masao Kobayashi; Desa Lilic; Joshua D Milner; Steven Holland; Jean-Laurent Casanova; Anne Puel
Journal:  Blood       Date:  2016-04-25       Impact factor: 22.113

7.  Genetic, immunological, and clinical features of patients with bacterial and fungal infections due to inherited IL-17RA deficiency.

Authors:  Romain Lévy; Satoshi Okada; Vivien Béziat; Kunihiko Moriya; Caini Liu; Louis Yi Ann Chai; Mélanie Migaud; Fabian Hauck; Amein Al Ali; Cyril Cyrus; Chittibabu Vatte; Turkan Patiroglu; Ekrem Unal; Marie Ferneiny; Nobuyuki Hyakuna; Serdar Nepesov; Matias Oleastro; Aydan Ikinciogullari; Figen Dogu; Takaki Asano; Osamu Ohara; Ling Yun; Erika Della Mina; Didier Bronnimann; Yuval Itan; Florian Gothe; Jacinta Bustamante; Stéphanie Boisson-Dupuis; Natalia Tahuil; Caner Aytekin; Aicha Salhi; Saleh Al Muhsen; Masao Kobayashi; Julie Toubiana; Laurent Abel; Xiaoxia Li; Yildiz Camcioglu; Fatih Celmeli; Christoph Klein; Suzan A AlKhater; Jean-Laurent Casanova; Anne Puel
Journal:  Proc Natl Acad Sci U S A       Date:  2016-12-07       Impact factor: 12.779

Review 8.  Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.

Authors:  Mohamed-Ridha Barbouche; Najla Mekki; Meriem Ben-Ali; Imen Ben-Mustapha
Journal:  Front Immunol       Date:  2017-06-27       Impact factor: 7.561

9.  Inherited IL-17RC deficiency in patients with chronic mucocutaneous candidiasis.

Authors:  Yun Ling; Sophie Cypowyj; Caner Aytekin; Miguel Galicchio; Yildiz Camcioglu; Serdar Nepesov; Aydan Ikinciogullari; Figen Dogu; Aziz Belkadi; Romain Levy; Mélanie Migaud; Bertrand Boisson; Alexandre Bolze; Yuval Itan; Nicolas Goudin; Julien Cottineau; Capucine Picard; Laurent Abel; Jacinta Bustamante; Jean-Laurent Casanova; Anne Puel
Journal:  J Exp Med       Date:  2015-04-27       Impact factor: 14.307

10.  The Extended Clinical Phenotype of 26 Patients with Chronic Mucocutaneous Candidiasis due to Gain-of-Function Mutations in STAT1.

Authors:  Mark Depner; Sebastian Fuchs; Jan Raabe; Natalie Frede; Cristina Glocker; Rainer Doffinger; Effrossyni Gkrania-Klotsas; Dinakantha Kumararatne; T Prescott Atkinson; Harry W Schroeder; Tim Niehues; Gregor Dückers; Asbjørg Stray-Pedersen; Ulrich Baumann; Reinhold Schmidt; Jose L Franco; Julio Orrego; Moshe Ben-Shoshan; Christine McCusker; Cristina Miuki Abe Jacob; Magda Carneiro-Sampaio; Lisa A Devlin; J David M Edgar; Paul Henderson; Richard K Russell; Anne-Bine Skytte; Suranjith L Seneviratne; Jennifer Wanders; Hans Stauss; Isabelle Meyts; Leen Moens; Milos Jesenak; Robin Kobbe; Stephan Borte; Michael Borte; Dowain A Wright; David Hagin; Troy R Torgerson; Bodo Grimbacher
Journal:  J Clin Immunol       Date:  2015-11-25       Impact factor: 8.317
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