Literature DB >> 30478525

MonoMAC Syndrome Caused by a Novel GATA2 Mutation Successfully Treated by Allogeneic Hematopoietic Stem Cell Transplantation.

Maria Francisca Moraes-Fontes1,2, Íris Caramalho3, Amy P Hsu4, Steven M Holland4, Manuel Abecasis5.   

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Year:  2018        PMID： 30478525     DOI： 10.1007/s10875-018-0576-x

Source DB:  PubMed          Journal:  J Clin Immunol        ISSN： 0271-9142            Impact factor:   8.317


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  4 in total

Review 1.  MonoMAC syndrome in a patient with a GATA2 mutation: case report and review of the literature.

Authors:  Jose F Camargo; Stephen A Lobo; Amy P Hsu; Christa S Zerbe; Gary P Wormser; Steven M Holland
Journal:  Clin Infect Dis       Date:  2013-05-31       Impact factor: 9.079

2.  Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome.

Authors:  Amy P Hsu; Elizabeth P Sampaio; Javed Khan; Katherine R Calvo; Jacob E Lemieux; Smita Y Patel; David M Frucht; Donald C Vinh; Roger D Auth; Alexandra F Freeman; Kenneth N Olivier; Gulbu Uzel; Christa S Zerbe; Christine Spalding; Stefania Pittaluga; Mark Raffeld; Douglas B Kuhns; Li Ding; Michelle L Paulson; Beatriz E Marciano; Juan C Gea-Banacloche; Jordan S Orange; Jennifer Cuellar-Rodriguez; Dennis D Hickstein; Steven M Holland
Journal:  Blood       Date:  2011-06-13       Impact factor: 22.113

3.  In vivo T-depleted reduced-intensity transplantation for GATA2-related immune dysfunction.

Authors:  Eleni Tholouli; Katherine Sturgess; Rachel E Dickinson; Andrew Gennery; Andrew J Cant; Graham Jackson; Jim Lordan; Sophie Hambleton; Mary A Slatter; Venetia Bigley; Matthew Collin
Journal:  Blood       Date:  2018-01-02       Impact factor: 22.113

4.  Successful outcome following allogeneic hematopoietic stem cell transplantation in adults with primary immunodeficiency.

Authors:  Thomas A Fox; Ronjon Chakraverty; Siobhan Burns; Benjamin Carpenter; Kirsty Thomson; David Lowe; Adele Fielding; Karl Peggs; Panagiotis Kottaridis; Benjamin Uttenthal; Venetia Bigley; Matthew Buckland; Victoria Grandage; Shari Denovan; Sarah Grace; Julia Dahlstrom; Sarita Workman; Andrew Symes; Stephen Mackinnon; Rachael Hough; Emma Morris
Journal:  Blood       Date:  2017-12-26       Impact factor: 25.476
  4 in total
  1 in total

1.  The Application of Whole-Exome Sequencing in Patients With FUO.

Authors:  Wanru Guo; Xuewen Feng; Ming Hu; Yanwan Shangguan; Jiafeng Xia; Wenjuan Hu; Xiaomeng Li; Zunjing Zhang; Yunzhen Shi; Kaijin Xu
Journal:  Front Cell Infect Microbiol       Date:  2022-01-12       Impact factor: 5.293
  1 in total

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