GATA2 deficiency: flesh and blood

被引：6

作者：

Horwitz, Marshall S. ^{[1
]}

机构：

[1] Univ Washington, Sch Med, Seattle, WA 98195 USA

来源：

BLOOD | 2014年 / 123卷 / 06期

关键词：

ACUTE MYELOID-LEUKEMIA; MONOMAC SYNDROME; MUTATIONS; CELL;

D O I：

10.1182/blood-2013-12-539858

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

In this issue of Blood, Spinner et al and Dickinson et al describe a surprising breadth of clinical and laboratory findings associated with germ-line mutation of the gene encoding the GATA2 transcription factor. © 2014 by The American Society of Hematology.

引用

页码：799 / 800

页数：2

共 10 条

[1] The evolution of cellular deficiency in GATA2 mutation [J].

Dickinson, Rachel E. ;

Milne, Paul ;

Jardine, Laura ;

Zandi, Sasan ;

Swierczek, Sabina I. ;

McGovern, Naomi ;

Cookson, Sharon ;

Ferozepurwalla, Zaveyna ;

Langridge, Alexander ;

Pagan, Sarah ;

Gennery, Andrew ;

Heiskanen-Kosma, Tarja ;

Hamalainen, Sari ;

Seppanen, Mikko ;

Helbert, Matthew ;

Tholouli, Eleni ;

Gambineri, Eleonora ;

Reykdal, Sigrun ;

Gottfredsson, Magnus ;

Thaventhiran, James E. ;

Morris, Emma ;

Hirschfield, Gideon ;

Richter, Alex G. ;

Jolles, Stephen ;

Bacon, Chris M. ;

Hambleton, Sophie ;

Haniffa, Muzlifah ;

Bryceson, Yenan ;

Allen, Carl ;

Prchal, Josef T. ;

Dick, John E. ;

Bigley, Venetia ;

Collin, Matthew .

BLOOD, 2014, 123 (06) :863-874

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

Dickinson, Rachel Emma ;

Griffin, Helen ;

Bigley, Venetia ;

Reynard, Louise N. ;

Hussain, Rafiqul ;

Haniffa, Muzlifah ;

Lakey, Jeremy H. ;

Rahman, Thahira ;

Wang, Xiao-Nong ;

McGovern, Naomi ;

Pagan, Sarah ;

Cookson, Sharon ;

McDonald, David ;

Chua, Ignatius ;

Wallis, Jonathan ;

Cant, Andrew ;

Wright, Michael ;

Keavney, Bernard ;

Chinnery, Patrick F. ;

Loughlin, John ;

Hambleton, Sophie ;

Santibanez-Koref, Mauro ;

Collin, Matthew .

BLOOD, 2011, 118 (10) :2656-2658

[3] Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia [J].

Hahn, Christopher N. ;

Chong, Chan-Eng ;

Carmichael, Catherine L. ;

Wilkins, Ella J. ;

Brautigan, Peter J. ;

Li, Xiao-Chun ;

Babic, Milena ;

Lin, Ming ;

Carmagnac, Amandine ;

Lee, Young K. ;

Kok, Chung H. ;

Gagliardi, Lucia ;

Friend, Kathryn L. ;

Ekert, Paul G. ;

Butcher, Carolyn M. ;

Brown, Anna L. ;

Lewis, Ian D. ;

To, L. Bik ;

Timms, Andrew E. ;

Storek, Jan ;

Moore, Sarah ;

Altree, Meryl ;

Escher, Robert ;

Bardy, Peter G. ;

Suthers, Graeme K. ;

D'Andrea, Richard J. ;

Horwitz, Marshall S. ;

Scott, Hamish S. .

NATURE GENETICS, 2011, 43 (10) :1012-U130

[4] Unexpected High Frequency of GATA2 Mutations in Children with Non-Familial MDS and Monosomy 7 [J].

Hirabayashi, Shinsuke ;

Strahm, Brigitte ;

Urbaniak, Sandra ;

Karow, Axel ;

Cseh, Annamaria ;

Van den Heuvel, Marry ;

Aytag, Selin ;

Wehr, Claudia ;

Janda, Ales ;

Stary, Jan ;

Hasle, Henrik ;

Dworzak, Michael ;

Schmugge, Markus ;

Locatelli, Franco ;

De Moerloose, Barbara ;

Catala, Albert ;

Smith, Owen ;

Baumann, Irith ;

Goehring, Gudrun ;

Schlegelberger, Brigitte ;

Niemeyer, Charlotte M. ;

Wlodarski, Marcin W. .

BLOOD, 2012, 120 (21)

[5] Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome [J].

Hsu, Amy P. ;

Sampaio, Elizabeth P. ;

Khan, Javed ;

Calvo, Katherine R. ;

Lemieux, Jacob E. ;

Patel, Smita Y. ;

Frucht, David M. ;

Vinh, Donald C. ;

Auth, Roger D. ;

Freeman, Alexandra F. ;

Olivier, Kenneth N. ;

Uzel, Gulbu ;

Zerbe, Christa S. ;

Spalding, Christine ;

Pittaluga, Stefania ;

Raffeld, Mark ;

Kuhns, Douglas B. ;

Ding, Li ;

Paulson, Michelle L. ;

Marciano, Beatriz E. ;

Gea-Banacloche, Juan C. ;

Orange, Jordan S. ;

Cuellar-Rodriguez, Jennifer ;

Hickstein, Dennis D. ;

Holland, Steven M. .

BLOOD, 2011, 118 (10) :2653-2655

[6] Recognizing familial myeloid leukemia in adults [J].

Nickels, Eric M. ;

Soodalter, Jesse ;

Churpek, Jane E. ;

Godley, Lucy A. .

THERAPEUTIC ADVANCES IN HEMATOLOGY, 2013, 4 (04) :254-269

[7] Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome) [J].

Ostergaard, Pia ;

Simpson, Michael A. ;

Connell, Fiona C. ;

Steward, Colin G. ;

Brice, Glen ;

Woollard, Wesley J. ;

Dafou, Dimitra ;

Kilo, Tatjana ;

Smithson, Sarah ;

Lunt, Peter ;

Murday, Victoria A. ;

Hodgson, Shirley ;

Keenan, Russell ;

Pilz, Daniela T. ;

Martinez-Corral, Ines ;

Makinen, Taija ;

Mortimer, Peter S. ;

Jeffery, Steve ;

Trembath, Richard C. ;

Mansour, Sahar .

NATURE GENETICS, 2011, 43 (10) :929-931

[8] High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia [J].

Pasquet, Marlene ;

Bellanne-Chantelot, Christine ;

Tavitian, Suzanne ;

Prade, Nais ;

Beaupain, Blandine ;

LaRochelle, Olivier ;

Petit, Arnaud ;

Rohrlich, Pierre ;

Ferrand, Christophe ;

Van den Neste, Eric ;

Poirel, Helene A. ;

Lamy, Thierry ;

Ouachee-Chardin, Marie ;

Mansat-De Mas, Veronique ;

Corre, Jill ;

Recher, Christian ;

Plat, Genevieve ;

Bachelerie, Francoise ;

Donadieu, Jean ;

Delabesse, Eric .

BLOOD, 2013, 121 (05) :822-829

[9] A recurrent germline PAX5 mutation confers susceptibility to pre-B cell acute lymphoblastic leukemia [J].

Shah, Sohela ;

Schrader, Kasmintan A. ;

Waanders, Esme ;

Timms, Andrew E. ;

Vijai, Joseph ;

Miething, Cornelius ;

Wechsler, Jeremy ;

Yang, Jun ;

Hayes, James ;

Klein, Robert J. ;

Zhang, Jinghui ;

Wei, Lei ;

Wu, Gang ;

Rusch, Michael ;

Nagahawatte, Panduka ;

Ma, Jing ;

Chen, Shann-Ching ;

Song, Guangchun ;

Cheng, Jinjun ;

Meyers, Paul ;

Bhojwani, Deepa ;

Jhanwar, Suresh ;

Maslak, Peter ;

Fleisher, Martin ;

Littman, Jason ;

Offit, Lily ;

Rau-Murthy, Rohini ;

Fleischut, Megan Harlan ;

Corines, Marina ;

Murali, Rajmohan ;

Gao, Xiaoni ;

Manschreck, Christopher ;

Kitzing, Thomas ;

Murty, Vundavalli V. ;

Raimondi, Susana C. ;

Kuiper, Roland P. ;

Simons, Annet ;

Schiffman, Joshua D. ;

Onel, Kenan ;

Plon, Sharon E. ;

Wheeler, David A. ;

Ritter, Deborah ;

Ziegler, David S. ;

Tucker, Kathy ;

Sutton, Rosemary ;

Chenevix-Trench, Georgia ;

Li, Jun ;

Huntsman, David G. ;

Hansford, Samantha ;

Senz, Janine .

NATURE GENETICS, 2013, 45 (10) :1226-U179

[10] GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity [J].

Spinner, Michael A. ;

Sanchez, Lauren A. ;

Hsu, Amy P. ;

Shaw, Pamela A. ;

Zerbe, Christa S. ;

Calvo, Katherine R. ;

Arthur, Diane C. ;

Gu, Wenjuan ;

Gould, Christine M. ;

Brewer, Carmen C. ;

Cowen, Edward W. ;

Freeman, Alexandra F. ;

Olivier, Kenneth N. ;

Uzel, Gulbu ;

Zelazny, Adrian M. ;

Daub, Janine R. ;

Spalding, Christine D. ;

Claypool, Reginald J. ;

Giri, Neelam K. ;

Alter, Blanche P. ;

Mace, Emily M. ;

Orange, Jordan S. ;

Cuellar-Rodriguez, Jennifer ;

Hickstein, Dennis D. ;

Holland, Steven M. .

BLOOD, 2014, 123 (06) :809-821

← 1 →