Literature DB >> 24726394

Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency.

Janet Chou1, Maxim Lutskiy1, Erdyni Tsitsikov2, Luigi D Notarangelo3, Raif S Geha4, Anahita Dioun1.   

Abstract

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Year:  2014        PMID： 24726394      PMCID： PMC4125425          DOI： 10.1016/j.jaci.2014.01.041

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


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  9 in total

1.  Loss-of-function germline GATA2 mutations in patients with MDS/AML or MonoMAC syndrome and primary lymphedema reveal a key role for GATA2 in the lymphatic vasculature.

Authors:  Jan Kazenwadel; Genevieve A Secker; Yajuan J Liu; Jill A Rosenfeld; Robert S Wildin; Jennifer Cuellar-Rodriguez; Amy P Hsu; Sarah Dyack; Conrad V Fernandez; Chan-Eng Chong; Milena Babic; Peter G Bardy; Akiko Shimamura; Michael Y Zhang; Tom Walsh; Steven M Holland; Dennis D Hickstein; Marshall S Horwitz; Christopher N Hahn; Hamish S Scott; Natasha L Harvey
Journal:  Blood       Date:  2011-12-06       Impact factor: 22.113

Review 2.  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

3.  Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications.

Authors:  Katherine R Calvo; Donald C Vinh; Irina Maric; Weixin Wang; Pierre Noel; Maryalice Stetler-Stevenson; Diane C Arthur; Mark Raffeld; Amalia Dutra; Evgenia Pak; Kyungjae Myung; Amy P Hsu; Dennis D Hickstein; Stefania Pittaluga; Steven M Holland
Journal:  Haematologica       Date:  2011-04-20       Impact factor: 9.941

4.  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

5.  GATA-2 anomaly and clinical phenotype of a sporadic case of lymphedema, dendritic cell, monocyte, B- and NK-cell (DCML) deficiency, and myelodysplasia.

Authors:  Hiroyuki Ishida; Kosuke Imai; Kenichi Honma; Shin-Ichi Tamura; Toshihiko Imamura; Masafumi Ito; Shigeaki Nonoyama
Journal:  Eur J Pediatr       Date:  2012-03-21       Impact factor: 3.183

6.  Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset.

Authors:  Emily M Mace; Amy P Hsu; Linda Monaco-Shawver; George Makedonas; Joshua B Rosen; Lesia Dropulic; Jeffrey I Cohen; Eugene P Frenkel; John C Bagwell; John L Sullivan; Christine A Biron; Christine Spalding; Christa S Zerbe; Gulbu Uzel; Steven M Holland; Jordan S Orange
Journal:  Blood       Date:  2013-01-30       Impact factor: 22.113

7.  Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia.

Authors:  Donald C Vinh; Smita Y Patel; Gulbu Uzel; Victoria L Anderson; Alexandra F Freeman; Kenneth N Olivier; Christine Spalding; Stephen Hughes; Stefania Pittaluga; Mark Raffeld; Lynn R Sorbara; Houda Z Elloumi; Douglas B Kuhns; Maria L Turner; Edward W Cowen; Danielle Fink; Debra Long-Priel; Amy P Hsu; Li Ding; Michelle L Paulson; Adeline R Whitney; Elizabeth P Sampaio; David M Frucht; Frank R DeLeo; Steven M Holland
Journal:  Blood       Date:  2009-12-29       Impact factor: 22.113

8.  Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency.

Authors:  Rachel Emma Dickinson; Helen Griffin; Venetia Bigley; Louise N Reynard; Rafiqul Hussain; Muzlifah Haniffa; Jeremy H Lakey; Thahira Rahman; Xiao-Nong Wang; Naomi McGovern; Sarah Pagan; Sharon Cookson; David McDonald; Ignatius Chua; Jonathan Wallis; Andrew Cant; Michael Wright; Bernard Keavney; Patrick F Chinnery; John Loughlin; Sophie Hambleton; Mauro Santibanez-Koref; Matthew Collin
Journal:  Blood       Date:  2011-07-15       Impact factor: 22.113

9.  Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia.

Authors:  Christopher N Hahn; Chan-Eng Chong; Catherine L Carmichael; Ella J Wilkins; Peter J Brautigan; Xiao-Chun Li; Milena Babic; Ming Lin; Amandine Carmagnac; Young K Lee; Chung H Kok; Lucia Gagliardi; Kathryn L Friend; Paul G Ekert; Carolyn M Butcher; Anna L Brown; Ian D Lewis; L Bik To; Andrew E Timms; Jan Storek; Sarah Moore; Meryl Altree; Robert Escher; Peter G Bardy; Graeme K Suthers; Richard J D'Andrea; Marshall S Horwitz; Hamish S Scott
Journal:  Nat Genet       Date:  2011-09-04       Impact factor: 38.330
  9 in total
  12 in total

1.  Myelodysplastic Syndrome and Acute Lymphocytic Leukemia in Common Variable Immunodeficiency (CVID).

Authors:  Jennifer Toh; Rachel Eisenberg; Kamila Bakirhan; Amit Verma; Arye Rubinstein
Journal:  J Clin Immunol       Date:  2016-03-18       Impact factor: 8.317

2.  Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

Authors:  Michaela Nováková; Markéta Žaliová; Martina Suková; Marcin Wlodarski; Aleš Janda; Eva Froňková; Vít Campr; Kateřina Lejhancová; Ondřej Zapletal; Dagmar Pospíšilová; Zdeňka Černá; Tomáš Kuhn; Peter Švec; Vendula Pelková; Zuzana Zemanová; Gitte Kerndrup; Marry van den Heuvel-Eibrink; Vincent van der Velden; Charlotte Niemeyer; Tomáš Kalina; Jan Trka; Jan Starý; Ondřej Hrušák; Ester Mejstříková
Journal:  Haematologica       Date:  2016-03-24       Impact factor: 9.941

Review 3.  Germline GATA2 Mutation and Bone Marrow Failure.

Authors:  Lisa J McReynolds; Katherine R Calvo; Steven M Holland
Journal:  Hematol Oncol Clin North Am       Date:  2018-05-28       Impact factor: 3.722

Review 4.  Inherited and acquired immunodeficiencies underlying tuberculosis in childhood.

Authors:  Stéphanie Boisson-Dupuis; Jacinta Bustamante; Jamila El-Baghdadi; Yildiz Camcioglu; Nima Parvaneh; Safaa El Azbaoui; Aomar Agader; Amal Hassani; Naima El Hafidi; Nidal Alaoui Mrani; Zineb Jouhadi; Fatima Ailal; Jilali Najib; Ismail Reisli; Adil Zamani; Sebnem Yosunkaya; Saniye Gulle-Girit; Alisan Yildiran; Funda Erol Cipe; Selda Hancerli Torun; Ayse Metin; Basak Yildiz Atikan; Nevin Hatipoglu; Cigdem Aydogmus; Sara Sebnem Kilic; Figen Dogu; Neslihan Karaca; Guzide Aksu; Necil Kutukculer; Melike Keser-Emiroglu; Ayper Somer; Gonul Tanir; Caner Aytekin; Parisa Adimi; Seyed Alireza Mahdaviani; Setareh Mamishi; Aziz Bousfiha; Ozden Sanal; Davood Mansouri; Jean-Laurent Casanova; Laurent Abel
Journal:  Immunol Rev       Date:  2015-03       Impact factor: 12.988

Review 5.  Haematopoietic and immune defects associated with GATA2 mutation.

Authors:  Matthew Collin; Rachel Dickinson; Venetia Bigley
Journal:  Br J Haematol       Date:  2015-02-23       Impact factor: 6.998

Review 6.  Bacille Calmette-Guerin Complications in Newly Described Primary Immunodeficiency Diseases: 2010-2017.

Authors:  Cristiane de Jesus Nunes-Santos; Sergio D Rosenzweig
Journal:  Front Immunol       Date:  2018-06-22       Impact factor: 7.561

7.  Herpetic ocular manifestations in a patient with GATA2 deficiency.

Authors:  Ana I Ortueta-Olartecoechea; José L Torres-Peña; Ana I Palacios-Hípola; Enrique Mencia-Gutierrez
Journal:  Saudi J Ophthalmol       Date:  2017-11-13

Review 8.  Human inborn errors of immunity to oncogenic viruses.

Authors:  Vivien Béziat; Emmanuelle Jouanguy
Journal:  Curr Opin Immunol       Date:  2021-08-05       Impact factor: 7.268

Review 9.  GATA2 Deficiency and Epstein-Barr Virus Disease.

Authors:  Jeffrey I Cohen
Journal:  Front Immunol       Date:  2017-12-22       Impact factor: 7.561

10.  Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients.

Authors:  Jean Donadieu; Marie Lamant; Claire Fieschi; Flore Sicre de Fontbrune; Aurélie Caye; Marie Ouachee; Blandine Beaupain; Jacinta Bustamante; Hélène A Poirel; Bertrand Isidor; Eric Van Den Neste; Antoine Neel; Stanislas Nimubona; Fabienne Toutain; Vincent Barlogis; Nicolas Schleinitz; Thierry Leblanc; Pierre Rohrlich; Felipe Suarez; Dana Ranta; Wadih Abou Chahla; Bénédicte Bruno; Louis Terriou; Sylvie Francois; Bruno Lioure; Guido Ahle; Françoise Bachelerie; Claude Preudhomme; Eric Delabesse; Hélène Cave; Christine Bellanné-Chantelot; Marlène Pasquet
Journal:  Haematologica       Date:  2018-05-03       Impact factor: 9.941
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