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Select item 87147141.

GATA2 deficiency phenotype associated with tandem duplication of GATA2 and overexpression of GATA2-AS1

Preeti Singh, Maninder Heer, Anastasia Resteu, Aneta Mikulasova, Mojgan Reza, Laëtitia Largeaud, Stéphanie Dufrechou, Naïs Prade, Rachel E. Dickinson, Jacinta Bustamante, Bénédicte Neven, Venetia Bigley, Eric Delabesse, Daniel Rico, Marlène Pasquet, Matthew Collin

Blood Adv. 2021 Dec 28; 5(24): 5631–5635. Published online 2021 Dec 28. doi: 10.1182/bloodadvances.2021005217

PMCID:: PMC8714714

Abstract Article PDF–878K

Select item 77546652.

Severe influenza in a paediatric patient with GATA2 deficiency and Emberger syndrome

Marie Louise Naestholt Jensen, Victor Dahl Mathiasen, Marinne Ifversen, Jeppe Sylvest Angaard Nielsen

BMJ Case Rep. 2020; 13(12): e236521. Published online 2020 Dec 21. doi: 10.1136/bcr-2020-236521

PMCID:: PMC7754665

Abstract Article PDF–467K

Select item 79591003.

Diagnosis of GATA2 Deficiency in a Young Woman with Hemophagocytic Lymphohistiocytosis Triggered by Acute Systemic Cytomegalovirus Infection

Nicole Burak, Naveed Jan, Jason Kessler, Erwin Oei, Priya Patel, Scott Feldman

Am J Case Rep. 2021; 22: e927087-1–e927087-6. Published online 2021 Mar 8. doi: 10.12659/AJCR.927087

PMCID:: PMC7959100

Abstract Article PDF–664K

Select item 45420984.

GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders

Matthias Griese, Ralf Zarbock, Ulrich Costabel, Jenna Hildebrandt, Dirk Theegarten, Michael Albert, Antonia Thiel, Andrea Schams, Joanna Lange, Katazyrna Krenke, Traudl Wesselak, Carola Schön, Matthias Kappler, Helmut Blum, Stefan Krebs, Andreas Jung, Carolin Kröner, Christoph Klein, Ilaria Campo, Maurizio Luisetti, Francesco Bonella

BMC Pulm Med. 2015; 15: 87. Published online 2015 Aug 12. doi: 10.1186/s12890-015-0083-2

PMCID:: PMC4542098

Abstract Article PDF–1.0M

Select item 85462365.

Pulmonary Manifestations of GATA2 Deficiency

Beatriz E. Marciano, Kenneth N. Olivier, Les R. Folio, Christa S. Zerbe, Amy P. Hsu, Alexandra F. Freeman, Armando C. Filie, Michael A. Spinner, Lauren A. Sanchez, Jana P. Lovell, Mark Parta, Jennifer M. Cuellar-Rodriguez, Dennis D. Hickstein, Steven M. Holland

Chest. 2021 Oct; 160(4): 1350–1359. Published online 2021 Jun 3. doi: 10.1016/j.chest.2021.05.046

PMCID:: PMC8546236

Abstract Article PDF–1.3M

Select item 85497406.

GATA2 Deficiency: Early identification for improved clinical outcomes

Kristen Cole, Daniele N. Avila, Mark Parta, Bazetta Blacklock Schuver, Steven M. Holland, Nirali Shah, Dennis Hickstein

Clin J Oncol Nurs. Author manuscript; available in PMC 2021 Oct 27.

Published in final edited form as: Clin J Oncol Nurs. 2019 Aug 1; 23(4): 417–422. doi: 10.1188/19.CJON.417-422

PMCID:: PMC8549740

Abstract Article PDF–127K

Select item 43428507.

GATA2 Deficiency

Amy P. Hsu, Lisa J. McReynolds, Steven M. Holland

Curr Opin Allergy Clin Immunol. Author manuscript; available in PMC 2016 Feb 1.

Published in final edited form as: Curr Opin Allergy Clin Immunol. 2015 Feb; 15(1): 104–109. doi: 10.1097/ACI.0000000000000126

PMCID:: PMC4342850

Abstract Article PDF–130K

Select item 42818308.

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 Jan 1; 125(1): 56–70. Prepublished online 2014 Oct 30. doi: 10.1182/blood-2014-06-580340

PMCID:: PMC4281830

Abstract Article

Select item 86640009.

A Nationwide Study of GATA2 Deficiency in Norway—the Majority of Patients Have Undergone Allo-HSCT

Silje F. Jørgensen, Jochen Buechner, Anders E. Myhre, Eivind Galteland, Signe Spetalen, Mari Ann Kulseth, Hanne S. Sorte, Øystein L. Holla, Emma Lundman, Charlotte Alme, Ingvild Heier, Trond Flægstad, Yngvar Fløisand, Andreas Benneche, Børre Fevang, Pål Aukrust, Asbjørg Stray-Pedersen, Tobias Gedde-Dahl, Ingvild Nordøy

J Clin Immunol. 2022; 42(2): 404–420. Published online 2021 Dec 10. doi: 10.1007/s10875-021-01189-y

PMCID:: PMC8664000

Abstract Article PDF–954K

Select item 870245110.

Donor Source and Post-Transplantation Cyclophosphamide Influence Outcome in Allogeneic Stem Cell Transplantation for GATA2 Deficiency

Diana X. Nichols-Vinueza, Mark Parta, Nirali N. Shah, Jennifer M. Cuellar-Rodriguez, Thomas R. Bauer, Jr., Robert R. West, Amy P. Hsu, Katherine R. Calvo, Seth M. Steinberg, Luigi D. Notarangelo, Steven M. Holland, Dennis D. Hickstein

Br J Haematol. Author manuscript; available in PMC 2023 Jan 1.

Published in final edited form as: Br J Haematol. 2022 Jan; 196(1): 169–178. Published online 2021 Sep 27. doi: 10.1111/bjh.17840

PMCID:: PMC8702451

Abstract Article PDF–577K

Select item 425354511.

Nonmyeloablative Allogeneic Hematopoietic Stem-Cell Transplantation for GATA2 Deficiency

Jennifer Grossman, Jennifer Cuellar-Rodriguez, Juan Gea-Banacloche, Christa Zerbe, Katherine Calvo, Thomas Hughes, Fran Hakim, Kristen Cole, Mark Parta, Alexandra Freeman, Steven M. Holland, Dennis D. Hickstein

Biol Blood Marrow Transplant. Author manuscript; available in PMC 2015 Dec 1.

Published in final edited form as: Biol Blood Marrow Transplant. 2014 Dec; 20(12): 1940–1948. Published online 2014 Aug 9. doi: 10.1016/j.bbmt.2014.08.004

PMCID:: PMC4253545

Abstract Article PDF–1.6M

Select item 775230612.

Many signs, one mutation: Early onset of de novo GATA2 deficiency syndrome. A case report

Maria Laura Blanco, Montserrat Torrent, Elena Bussaglia, Isabel Badell, Josep F. Nomdedéu

Clin Case Rep. 2020 Dec; 8(12): 3193–3197. Published online 2020 Sep 30. doi: 10.1002/ccr3.3304

PMCID:: PMC7752306

Abstract Article PDF–514K

Select item 890157613.

Single Center Experience With Pediatric Patients With GATA2 Deficiency

Galina Ovsyannikova, Anna Pavlova, Ekaterina Deordieva, Elena Raykina, Alexey Pshonkin, Alexey Maschan, Michael Maschan

Front Pediatr. 2022; 10: 801810. Published online 2022 Feb 22. doi: 10.3389/fped.2022.801810

PMCID:: PMC8901576

Abstract Article PDF–156K

Select item 890569614.

GATA2 deficiency elevates interferon regulatory factor-8 to subvert a progenitor cell differentiation program

Kirby D. Johnson, Alexandra A. Soukup, Emery H. Bresnick

Blood Adv. 2022 Mar 8; 6(5): 1464–1473. Published online 2022 Mar 2. doi: 10.1182/bloodadvances.2021006182

PMCID:: PMC8905696

Abstract Article PDF–2.3M

Select item 893894415.

Inherited GATA2 deficiency is dominant by haploinsufficiency and displays incomplete clinical penetrance

Carmen Oleaga-Quintas, Edgar Borges de Oliveira-Júnior, Jérémie Rosain, Franck Rappaport, Caroline Deswarte, Antoine Guérin, Sairaj Munavar Sajjath, Jerry Yu Zhou, Stéphane Marot, Claire Lozano, Lidia Branco, Núria Fernández-Hidalgo, Dukhee Betty Lew, Anne-Sophie Brunel, Caroline Thomas, Elise Launay, Andrés Augusto Arias, Alexis Cuffel, Vanesa Cunill Monjo, Anna-Lena Neehus, Laura Marques, Manon Roynard, Marcela Moncada-Velez, Bengü Gerçeker, Roger Colobran, Marie-Gabrielle Vigué, Gabriela Lopez-Herrera, Laura Berron-Ruiz, Nora Hilda Segura Méndez, Patricia O’Farrill Romanillos, Tom Le Voyer, Anne Puel, Christine Bellanné-Chantelot, Kacy A. Ramirez, Lazaro Lorenzo-Diaz, Noé Ramirez Alejo, Rebeca Pérez de Diego, Antonio Condino-Neto, Fethi Mellouli, Carlos Rodriguez-Gallego, Torsten Witte, José Franco Restrepo, Mariana Jobim, Stéphanie Boisson-Dupuis, Eric Jeziorski, Claire Fieschi, Guillaume Vogt, Jean Donadieu, Marlène Pasquet, Julia Vasconcelos, Fatma Omur Ardeniz, Mónica Martínez-Gallo, Regis A. Campos, Luiz Fernando Jobim, Rubén Martinez-Barricarte, Kang Liu, Aurélie Cobat, Laurent Abel, Jean-Laurent Casanova, Jacinta Bustamante

J Clin Immunol. Author manuscript; available in PMC 2022 Apr 1.

Published in final edited form as: J Clin Immunol. 2021 Apr; 41(3): 639–657. Published online 2021 Jan 8. doi: 10.1007/s10875-020-00930-3

PMCID:: PMC8938944

Abstract Article PDF–2.5M

Select item 894530816.

ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome

Robert R. West, Katherine R. Calvo, Lisa J. Embree, Weixin Wang, Laura M. Tuschong, Thomas R. Bauer, Jr, Desiree Tillo, Justin Lack, Stephenie Droll, Amy P. Hsu, Steven M. Holland, Dennis D. Hickstein

Blood Adv. 2022 Feb 8; 6(3): 793–807. Published online 2022 Jan 31. doi: 10.1182/bloodadvances.2021005065

PMCID:: PMC8945308

Abstract Article PDF–1.4M

Select item 912065917.

GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis

Oded Shamriz, Naseem Zahalka, Amos J. Simon, Atar Lev, Ortal Barel, Nofar Mor, Yuval Tal, Michael J. Segel, Raz Somech, Hagith Yonath, Ori Toker

Front Immunol. 2022; 13: 886117. Published online 2022 May 6. doi: 10.3389/fimmu.2022.886117

PMCID:: PMC9120659

Abstract Article PDF–914K

Select item 391687618.

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

Michael A. Spinner, Lauren A. Sanchez, Amy P. Hsu, Pamela A. Shaw, Christa S. Zerbe, Katherine R. Calvo, Diane C. Arthur, Wenjuan Gu, Christine M. Gould, Carmen C. Brewer, Edward W. Cowen, Alexandra F. Freeman, Kenneth N. Olivier, Gulbu Uzel, Adrian M. Zelazny, Janine R. Daub, Christine D. Spalding, Reginald J. Claypool, Neelam K. Giri, Blanche P. Alter, Emily M. Mace, Jordan S. Orange, Jennifer Cuellar-Rodriguez, Dennis D. Hickstein, Steven M. Holland

Blood. 2014 Feb 6; 123(6): 809–821. Prepublished online 2013 Nov 13. doi: 10.1182/blood-2013-07-515528

PMCID:: PMC3916876

Abstract Article

Select item 929116319.

GATA2 deficiency syndrome: A decade of discovery

Claire C. Homan, Parvathy Venugopal, Peer Arts, Nur H. Shahrin, Simone Feurstein, Lesley Rawlings, David M. Lawrence, James Andrews, Sarah L. King‐Smith, Natasha L. Harvey, Anna L. Brown, Hamish S. Scott, Christopher N. Hahn

Hum Mutat. 2021 Nov; 42(11): 1399–1421. Published online 2021 Aug 31. doi: 10.1002/humu.24271

PMCID:: PMC9291163

Abstract Article PDF–1.8M

Select item 979605820.

GATA2 deficiency and MDS/AML: Experimental strategies for disease modelling and future therapeutic prospects

Lili Kotmayer, Damia Romero‐Moya, Oskar Marin‐Bejar, Emilia Kozyra, Albert Català, Anna Bigas, Marcin W. Wlodarski, Csaba Bödör, Alessandra Giorgetti

Br J Haematol. 2022 Nov; 199(4): 482–495. Published online 2022 Jun 26. doi: 10.1111/bjh.18330

PMCID:: PMC9796058

Abstract Article PDF–3.0M

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