Literature DB >> 24709374

Gain-of-function signal transducer and activator of transcription 1 (STAT1) mutation-related primary immunodeficiency is associated with disseminated mucormycosis.

Nilay Kumar1, Mary E Hanks2, Prabha Chandrasekaran2, Brian C Davis1, Amy P Hsu2, Nicholas J Van Wagoner3, Jessica S Merlin3, Christine Spalding2, Ricardo M La Hoz4, Steven M Holland2, Christa S Zerbe2, Elizabeth P Sampaio5.   

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Year:  2014        PMID： 24709374      PMCID： PMC4125455          DOI： 10.1016/j.jaci.2014.02.037

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


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  9 in total

1.  Early clinical and laboratory diagnosis of invasive pulmonary, extrapulmonary, and disseminated mucormycosis (zygomycosis).

Authors:  Thomas J Walsh; Maria N Gamaletsou; Michael R McGinnis; Randall T Hayden; Dimitrios P Kontoyiannis
Journal:  Clin Infect Dis       Date:  2012-02       Impact factor: 9.079

2.  Signal transducer and activator of transcription 1 (STAT1) gain-of-function mutations and disseminated coccidioidomycosis and histoplasmosis.

Authors:  Elizabeth P Sampaio; Amy P Hsu; Joseph Pechacek; Hannelore I Bax; Dalton L Dias; Michelle L Paulson; Prabha Chandrasekaran; Lindsey B Rosen; Daniel S Carvalho; Li Ding; Donald C Vinh; Sarah K Browne; Shrimati Datta; Joshua D Milner; Douglas B Kuhns; Debra A Long Priel; Mohammed A Sadat; Michael Shiloh; Brendan De Marco; Michael Alvares; Jason W Gillman; Vivek Ramarathnam; Maite de la Morena; Liliana Bezrodnik; Ileana Moreira; Gulbu Uzel; Daniel Johnson; Christine Spalding; Christa S Zerbe; Henry Wiley; David E Greenberg; Susan E Hoover; Sergio D Rosenzweig; John N Galgiani; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2013-03-28       Impact factor: 10.793

3.  Molecular phylogenetic diversity of the emerging mucoralean fungus Apophysomyces: proposal of three new species.

Authors:  Eduardo Alvarez; Alberto M Stchigel; Josep Cano; Deanna A Sutton; Annette W Fothergill; Jagdish Chander; Valentina Salas; Michael G Rinaldi; Josep Guarro
Journal:  Rev Iberoam Micol       Date:  2010-03-04       Impact factor: 1.044

Review 4.  Inborn errors of human JAKs and STATs.

Authors:  Jean-Laurent Casanova; Steven M Holland; Luigi D Notarangelo
Journal:  Immunity       Date:  2012-04-20       Impact factor: 31.745

5.  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

6.  Dominant gain-of-function STAT1 mutations in FOXP3 wild-type immune dysregulation-polyendocrinopathy-enteropathy-X-linked-like syndrome.

Authors:  Gulbu Uzel; Elizabeth P Sampaio; Monica G Lawrence; Amy P Hsu; Mary Hackett; Morna J Dorsey; Richard J Noel; James W Verbsky; Alexandra F Freeman; Erin Janssen; Francisco A Bonilla; Joseph Pechacek; Prabha Chandrasekaran; Sarah K Browne; Anahita Agharahimi; Ahmed M Gharib; Sara C Mannurita; Jae Joon Yim; Eleonora Gambineri; Troy Torgerson; Dat Q Tran; Joshua D Milner; Steven M Holland
Journal:  J Allergy Clin Immunol       Date:  2013-03-25       Impact factor: 10.793

7.  Necrotizing cutaneous mucormycosis after a tornado in Joplin, Missouri, in 2011.

Authors:  Robyn Neblett Fanfair; Kaitlin Benedict; John Bos; Sarah D Bennett; Yi-Chun Lo; Tolu Adebanjo; Kizee Etienne; Eszter Deak; Gordana Derado; Wun-Ju Shieh; Clifton Drew; Sherif Zaki; David Sugerman; Lalitha Gade; Elizabeth H Thompson; Deanna A Sutton; David M Engelthaler; James M Schupp; Mary E Brandt; Julie R Harris; Shawn R Lockhart; George Turabelidze; Benjamin J Park
Journal:  N Engl J Med       Date:  2012-12-06       Impact factor: 91.245

Review 8.  Rhino-orbitocerebral mucormycosis caused by Apophysomyces elegans.

Authors:  Kimberly P Liang; Imad M Tleyjeh; Walter R Wilson; Glenn D Roberts; Zelalem Temesgen
Journal:  J Clin Microbiol       Date:  2006-03       Impact factor: 5.948

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
  9 in total
  20 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.  Human invasive mycoses: immunogenetics on the rise.

Authors:  Michail S Lionakis; Steven M Holland
Journal:  J Infect Dis       Date:  2014-07-23       Impact factor: 5.226

Review 3.  Targeted strategies directed at the molecular defect: Toward precision medicine for select primary immunodeficiency disorders.

Authors:  Luigi D Notarangelo; Thomas A Fleisher
Journal:  J Allergy Clin Immunol       Date:  2017-03       Impact factor: 10.793

4.  Ruxolitinib reverses dysregulated T helper cell responses and controls autoimmunity caused by a novel signal transducer and activator of transcription 1 (STAT1) gain-of-function mutation.

Authors:  Katja G Weinacht; Louis-Marie Charbonnier; Fayhan Alroqi; Ashley Plant; Qi Qiao; Hao Wu; Clement Ma; Troy R Torgerson; Sergio D Rosenzweig; Thomas A Fleisher; Luigi D Notarangelo; Imelda C Hanson; Lisa R Forbes; Talal A Chatila
Journal:  J Allergy Clin Immunol       Date:  2017-01-27       Impact factor: 10.793

5.  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 6.  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 7.  Targeted Therapy with Biologicals and Small Molecules in Primary Immunodeficiencies.

Authors:  Ottavia Maria Delmonte; Luigi Daniele Notarangelo
Journal:  Med Princ Pract       Date:  2019-10-10       Impact factor: 1.927

Review 8.  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

9.  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

10.  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
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