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Journal Articles

Clinical and functional spectrum of RAC2-related immunodeficiency

Blood (2024) 143 (15): 1476–1487.

https://doi.org/10.1182/blood.2023022098

Published: 2024

Includes: Supplemental data

Journal Articles

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Blood (2021) 138 (23): 2441–2445.

https://doi.org/10.1182/blood.2021012781

Published: 2021

Includes: Supplemental data

Journal Articles

Single-Cell RNA Sequencing Reveals a Distinct Transcriptome Signature of Hematopoiesis in GATA2 Deficiency

Zhijie Wu, MD PhD, Shouguo Gao, PhD, Sachiko Kajigaya, PhD, Jinguo Chen, PhD, Rongye Shi, BS, Carrie Diamond, MD, Cindy Palmer, BSN, Amy P. Hsu, Katherine R. Calvo, MD PhD, Dennis D. Hickstein, MD, Steven M. Holland, MD, Neal S. Young, MD

Blood (2019) 134 (Supplement_1): 3735.

https://doi.org/10.1182/blood-2019-124774

Published: 2019

Journal Articles

GATA2 -Dependent Developmental and Regenerative Networks

Alexandra Soukup, PhD, Kirby D Johnson, PhD, Daniel J Conn, PhD, Evgenia Shishkova, PhD, Koichi Ricardo Katsumura, MD PhD, Peng Liu, PhD, Erik A. Ranheim, MD PhD, Katherine R. Calvo, MD PhD, Amy P. Hsu, Steven M. Holland, MD, Joshua J Coon, PhD, Sunduz Keles, PhD, Emery H Bresnick, PhD

Blood (2019) 134 (Supplement_1): 1182.

https://doi.org/10.1182/blood-2019-126875

Published: 2019

Journal Articles

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Blood (2019) 133 (18): 1977–1988.

https://doi.org/10.1182/blood-2018-11-886028

Published: 2019

Includes: Multimedia, Supplemental data

Journal Articles

Donor-derived MDS/AML in families with germline GATA2 mutation

Pallavi Galera, Amy P. Hsu, Weixin Wang, Stephenie Droll, Rui Chen, Jason R. Schwartz, Jeffery M. Klco, Sally Arai, Luke Maese, Christa Zerbe, Mark J. Parta, Neal S. Young, Steven M. Holland, Dennis D. Hickstein, Katherine R. Calvo

Blood (2018) 132 (18): 1994–1998.

https://doi.org/10.1182/blood-2018-07-861070

Published: 2018

Includes: Supplemental data

Journal Articles

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Blood (2017) 130 (24): 2682–2688.

https://doi.org/10.1182/blood-2017-07-798660

Published: 2017

Journal Articles

Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells

Blood (2017) 129 (14): 1927–1939.

https://doi.org/10.1182/blood-2016-08-734236

Published: 2017

Includes: Supplemental data

Journal Articles

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Blood (2016) 128 (17): 2135–2143.

https://doi.org/10.1182/blood-2016-03-706028

Published: 2016

Includes: Multimedia, Supplemental data

Journal Articles

Development of Somatic NRAS Mutation Associated with Rapid Transition from Germline GATA2 Mutation Associated Myelodysplastic Syndrome to Acute Myeloid Leukemia

Yanqin Yang, MDMSc, Yubo Zhang, PhD, Jun Zhu, PhD, Catherine E. Lai, MD, Jingrong Tang, MD PhD, Lisa J. McReynolds, MD PhD, Amy P Hsu, Dennis D. Hickstein, MD, Danielle M. Townsley, MD, Steven M. Holland, MD, Katherine R. Calvo, MD, PhD, Christopher S. Hourigan, MDPhD

Blood (2015) 126 (23): 3616.

https://doi.org/10.1182/blood.V126.23.3616.3616

Published: 2015

Journal Articles

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia

Karthik A. Ganapathi, Danielle M. Townsley, Amy P. Hsu, Diane C. Arthur, Christa S. Zerbe, Jennifer Cuellar-Rodriguez, Dennis D. Hickstein, Sergio D. Rosenzweig, Raul C. Braylan, Neal S. Young, Steven M. Holland, Katherine R. Calvo

Blood (2015) 125 (1): 56–70.

https://doi.org/10.1182/blood-2014-06-580340

Published: 2015

Journal Articles

Hemophagocytic Lymphohistiocytosis Associated with NK Cell Dysfunction and Disseminated Herpesvirus Infection in GATA2 Deficiency/Monomac Syndrome

Michael A. Spinner, MD, Camila Odio, B.S., Katherine R. Calvo, MD, PhD, Amy P Hsu, B.A., Christa S. Zerbe, MD, Jennifer Cuellar-Rodriguez, MD, Jennifer P. Ker, MD, Charles J. Stoudenmire, MD, Oluwole Fadare, MD, Arunima Ghosh, MD,PhD, Emily M. Mace, PhD, Jordan S. Orange, MD, PhD, Dennis D. Hickstein, MD, Steven M. Holland, MD

Blood (2014) 124 (21): 4978.

https://doi.org/10.1182/blood.V124.21.4978.4978

Published: 2014

Journal Articles

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

Susan Price, Pamela A. Shaw, Amy Seitz, Gyan Joshi, Joie Davis, Julie E. Niemela, Katie Perkins, Ronald L. Hornung, Les Folio, Philip S. Rosenberg, Jennifer M. Puck, Amy P. Hsu, Bernice Lo, Stefania Pittaluga, Elaine S. Jaffe, Thomas A. Fleisher, V. Koneti Rao, Michael J. Lenardo

Blood (2014) 123 (13): 1989–1999.

https://doi.org/10.1182/blood-2013-10-535393

Published: 2014

Includes: Supplemental data

Journal Articles

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

Blood (2014) 123 (6): 809–821.

https://doi.org/10.1182/blood-2013-07-515528

Published: 2014

Includes: Supplemental data

Journal Articles

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

Amy P. Hsu, Kirby D. Johnson, E. Liana Falcone, Rajendran Sanalkumar, Lauren Sanchez, Dennis D. Hickstein, Jennifer Cuellar-Rodriguez, Jacob E. Lemieux, Christa S. Zerbe, Emery H. Bresnick, Steven M. Holland

Blood (2013) 121 (19): 3830–3837.

https://doi.org/10.1182/blood-2012-08-452763

Published: 2013

Includes: Supplemental data

Journal Articles

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

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

Blood (2013) 121 (14): 2669–2677.

https://doi.org/10.1182/blood-2012-09-453969

Published: 2013

Includes: Supplemental data

Journal Articles

Allogeneic Hematopoietic Stem Cell Transplant Reverses the Phenotype of GATA2 Deficiency.

Jennifer Cuellar-Rodriguez, M.D., Juan Gea-Banacloche, MD, Amy P Hsu, BA, Christa Zerbe, MD, Alexandra Freeman, MD, Kenneth N Olivier, Katherine R Calvo, MD, PhD, Terry J Fry, MD, Steven M. Holland, MD, Dennis D. Hickstein, M.D.

Blood (2012) 120 (21): 3091.

https://doi.org/10.1182/blood.V120.21.3091.3091

Published: 2012

Journal Articles

Genetic Determinants of the Definitive Hematopoietic Stem/Progenitor Cell Compartment

Kirby D Johnson, PhD, Xin Gao, Rajendran Sanalkumar, PhD, Amy P Hsu, BA, Myung-Jeom Ryu, PhD, Jinyong Wang, PhD, Meghan E Boyer, Yangang Liu, Katherine R Calvo, MD, PhD, Sunduz Keles, PhD, Jing Zhang, PhD, Steven M. Holland, MD, Emery H Bresnick, PhD

Blood (2012) 120 (21): 1226.

https://doi.org/10.1182/blood.V120.21.1226.1226

Published: 2012

Journal Articles

MCL-1 and Mir-181c in GATA2 Mutation Associated Monomac and Familial Myelodysplastic Syndrome

Weixin Wang, PhD, Meghan Corrigan-Cummins, BS, Donald C Vinh, M.D., Amy P Hsu, BA, Dennis D. Hickstein, M.D., Steven M. Holland, MD, Katherine R Calvo, MD, PhD

Blood (2012) 120 (21): 3807.

https://doi.org/10.1182/blood.V120.21.3807.3807

Published: 2012

Journal Articles

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

Blood (2012) 119 (5): 1283–1291.

https://doi.org/10.1182/blood-2011-08-374363

Published: 2012

Includes: Supplemental data

NARROW

Clinical and functional spectrum of RAC2-related immunodeficiency

Association of unbalanced translocation der(1;7) with germline GATA2 mutations

Single-Cell RNA Sequencing Reveals a Distinct Transcriptome Signature of Hematopoiesis in GATA2 Deficiency

GATA2 -Dependent Developmental and Regenerative Networks

Dominant activating RAC2 mutation with lymphopenia, immunodeficiency, and cytoskeletal defects

Donor-derived MDS/AML in families with germline GATA2 mutation

Hematopoietic stem cell transplantation rescues the hematological, immunological, and vascular phenotype in DADA2

Adaptive NK cells can persist in patients with GATA2 mutation depleted of stem and progenitor cells

Cytoskeletal abnormalities and neutrophil dysfunction in WDR1 deficiency

Development of Somatic NRAS Mutation Associated with Rapid Transition from Germline GATA2 Mutation Associated Myelodysplastic Syndrome to Acute Myeloid Leukemia

GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic anemia

Hemophagocytic Lymphohistiocytosis Associated with NK Cell Dysfunction and Disseminated Herpesvirus Infection in GATA2 Deficiency/Monomac Syndrome

Natural history of autoimmune lymphoproliferative syndrome associated with FAS gene mutations

GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity

GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome

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

Allogeneic Hematopoietic Stem Cell Transplant Reverses the Phenotype of GATA2 Deficiency.

Genetic Determinants of the Definitive Hematopoietic Stem/Progenitor Cell Compartment

MCL-1 and Mir-181c in GATA2 Mutation Associated Monomac and Familial Myelodysplastic Syndrome

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

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American Society of Hematology

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ASH Publications

American Society of Hematology

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