Literature DB >> 23245795

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

Xiaowen Wang, Zhimiao Lin, Lujuan Gao, Aiping Wang, Zhe Wan, Wei Chen, Yong Yang, Ruoyu Li.   

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Year:  2012        PMID： 23245795     DOI： 10.1016/j.jaci.2012.11.005

Source DB:  PubMed          Journal:  J Allergy Clin Immunol        ISSN： 0091-6749            Impact factor:   10.793


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  14 in total

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

Authors:  Najla Mekki; Imen Ben-Mustapha; Luyan Liu; Lobna Boussofara; Satoshi Okada; Sophie Cypowyj; Najet Ghariani; Wafa Saidi; Mohamed Denguezli; Jean-Laurent Casanova; Anne Puel; Mohamed-Ridha Barbouche
Journal:  J Invest Dermatol       Date:  2013-11-11       Impact factor: 8.551

Review 2.  A 1-year-old girl with a gain-of-function STAT1 mutation treated with hematopoietic stem cell transplantation.

Authors:  Juan Carlos Aldave; Enrique Cachay; Luis Núñez; Ausberto Chunga; Sergio Murillo; Sophie Cypowyj; Jacinta Bustamante; Anne Puel; Jean-Laurent Casanova; Armando Koo
Journal:  J Clin Immunol       Date:  2013-10-09       Impact factor: 8.317

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.  Advances in basic and clinical immunology in 2013.

Authors:  Javier Chinen; Luigi D Notarangelo; William T Shearer
Journal:  J Allergy Clin Immunol       Date:  2014-02-28       Impact factor: 10.793

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.  Simple diagnosis of STAT1 gain-of-function alleles in patients with chronic mucocutaneous candidiasis.

Authors:  Yoko Mizoguchi; Miyuki Tsumura; Satoshi Okada; Osamu Hirata; Shizuko Minegishi; Kohsuke Imai; Nobuyuki Hyakuna; Hideki Muramatsu; Seiji Kojima; Yusuke Ozaki; Takehide Imai; Sachiyo Takeda; Tetsuya Okazaki; Tsuyoshi Ito; Shin'ichiro Yasunaga; Yoshihiro Takihara; Vanessa L Bryant; Xiao-Fei Kong; Sophie Cypowyj; Stéphanie Boisson-Dupuis; Anne Puel; Jean-Laurent Casanova; Tomohiro Morio; Masao Kobayashi
Journal:  J Leukoc Biol       Date:  2013-12-16       Impact factor: 4.962

7.  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

Review 8.  Primary immunodeficiencies underlying fungal infections.

Authors:  Fanny Lanternier; Sophie Cypowyj; Capucine Picard; Jacinta Bustamante; Olivier Lortholary; Jean-Laurent Casanova; Anne Puel
Journal:  Curr Opin Pediatr       Date:  2013-12       Impact factor: 2.856

9.  An ACT1 mutation selectively abolishes interleukin-17 responses in humans with chronic mucocutaneous candidiasis.

Authors:  Bertrand Boisson; Chenhui Wang; Vincent Pedergnana; Ling Wu; Sophie Cypowyj; Michel Rybojad; Aziz Belkadi; Capucine Picard; Laurent Abel; Claire Fieschi; Anne Puel; Xiaoxia Li; Jean-Laurent Casanova
Journal:  Immunity       Date:  2013-10-10       Impact factor: 31.745

Review 10.  Mendelian genetics of human susceptibility to fungal infection.

Authors:  Michail S Lionakis; Mihai G Netea; Steven M Holland
Journal:  Cold Spring Harb Perspect Med       Date:  2014-06-02       Impact factor: 6.915
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