Literature DB >> 24188975

Penicillium marneffei infection and impaired IFN-γ immunity in humans with autosomal-dominant gain-of-phosphorylation STAT1 mutations.

Pamela P W Lee1, Huawei Mao1, Wanling Yang1, Koon-Wing Chan1, Marco H K Ho1, Tsz-Leung Lee1, Jasper F W Chan2, Patrick C Y Woo2, Wenwei Tu1, Yu-Lung Lau3.   

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Year:  2013        PMID： 24188975     DOI： 10.1016/j.jaci.2013.08.051

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


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  31 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

Review 2.  Talaromycosis (Penicilliosis) Due to Talaromyces (Penicillium) marneffei: Insights into the Clinical Trends of a Major Fungal Disease 60 Years After the Discovery of the Pathogen.

Authors:  Cunwei Cao; Liyan Xi; Vishnu Chaturvedi
Journal:  Mycopathologia       Date:  2019-12       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

5.  A Human STAT1 Gain-of-Function Mutation Impairs CD8+ T Cell Responses against Gammaherpesvirus 68.

Authors:  Wei Qian; Cathrine A Miner; Harshad Ingle; Derek J Platt; Megan T Baldridge; Jonathan J Miner
Journal:  J Virol       Date:  2019-09-12       Impact factor: 5.103

Review 6.  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

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

8.  Disseminated Talaromyces marneffei Infection in a Non-HIV Infant With a Homozygous Private Variant of RELB.

Authors:  Xiaofang Ding; Han Huang; Lili Zhong; Min Chen; Fang Peng; Bing Zhang; Xinyu Cui; Xiu-An Yang
Journal:  Front Cell Infect Microbiol       Date:  2021-03-15       Impact factor: 5.293

9.  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

10.  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
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