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Genet."},{"key":"ref_3","doi-asserted-by":"crossref","first-page":"6673","DOI":"10.1182\/blood-2011-02-336537","article-title":"Mutations in ANKRD26 Are Responsible for a Frequent Form of Inherited Thrombocytopenia: Analysis of 78 Patients from 21 Families","volume":"117","author":"Noris","year":"2011","journal-title":"Blood"},{"key":"ref_4","doi-asserted-by":"crossref","first-page":"1987","DOI":"10.1182\/blood-2013-04-499319","article-title":"ANKRD26-Related Thrombocytopenia and Myeloid Malignancies","volume":"122","author":"Noris","year":"2013","journal-title":"Blood"},{"key":"ref_5","doi-asserted-by":"crossref","first-page":"180","DOI":"10.1038\/ng.3177","article-title":"Germline ETV6 Mutations in Familial Thrombocytopenia and Hematologic Malignancy","volume":"47","author":"Zhang","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_6","doi-asserted-by":"crossref","first-page":"535","DOI":"10.1038\/ng.3253","article-title":"Germline Mutations in ETV6 Are Associated with Thrombocytopenia, Red Cell Macrocytosis and Predisposition to Lymphoblastic Leukemia","volume":"47","author":"Noetzli","year":"2015","journal-title":"Nat. Genet."},{"key":"ref_7","doi-asserted-by":"crossref","unstructured":"Topka, S., Vijai, J., Walsh, M.F., Jacobs, L., Maria, A., Villano, D., Gaddam, P., Wu, G., McGee, R.B., and Quinn, E. (2015). Germline ETV6 Mutations Confer Susceptibility to Acute Lymphoblastic Leukemia and Thrombocytopenia. PLoS Genet., 11.","DOI":"10.1371\/journal.pgen.1005262"},{"key":"ref_8","doi-asserted-by":"crossref","first-page":"2403","DOI":"10.1056\/NEJMoa041331","article-title":"Mutation of CEBPA in Familial Acute Myeloid Leukemia","volume":"351","author":"Smith","year":"2004","journal-title":"N. Engl. J. Med."},{"key":"ref_9","doi-asserted-by":"crossref","first-page":"658","DOI":"10.1016\/j.ccell.2015.03.017","article-title":"Inherited and Somatic Defects in DDX41 in Myeloid Neoplasms","volume":"27","author":"Polprasert","year":"2015","journal-title":"Cancer Cell"},{"key":"ref_10","doi-asserted-by":"crossref","first-page":"1012","DOI":"10.1038\/ng.913","article-title":"Heritable GATA2 Mutations Associated with Familial Myelodysplastic Syndrome and Acute Myeloid Leukemia","volume":"43","author":"Hahn","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_11","doi-asserted-by":"crossref","first-page":"362","DOI":"10.1182\/blood-2015-09-668673","article-title":"Germline RBBP6 Mutations in Familial Myeloproliferative Neoplasms","volume":"127","author":"Harutyunyan","year":"2016","journal-title":"Blood"},{"key":"ref_12","doi-asserted-by":"crossref","first-page":"1567","DOI":"10.1002\/humu.21115","article-title":"Defining the Pathogenic Role of Telomerase Mutations in Myelodysplastic Syndrome and Acute Myeloid Leukemia","volume":"30","author":"Kirwan","year":"2009","journal-title":"Hum. Mutat."},{"key":"ref_13","doi-asserted-by":"crossref","first-page":"792","DOI":"10.1038\/ng.3569","article-title":"SAMD9 Mutations Cause a Novel Multisystem Disorder, MIRAGE Syndrome, and Are Associated with Loss of Chromosome 7","volume":"48","author":"Narumi","year":"2016","journal-title":"Nat. Genet."},{"key":"ref_14","doi-asserted-by":"crossref","first-page":"1146","DOI":"10.1016\/j.ajhg.2016.04.009","article-title":"Ataxia-Pancytopenia Syndrome Is Caused by Missense Mutations in SAMD9L","volume":"98","author":"Chen","year":"2016","journal-title":"Am. J. Hum. Genet."},{"key":"ref_15","doi-asserted-by":"crossref","first-page":"2266","DOI":"10.1182\/blood-2016-10-743302","article-title":"Gain-of-Function SAMD9L Mutations Cause a Syndrome of Cytopenia, Immunodeficiency, MDS, and Neurological Symptoms","volume":"129","author":"Tesi","year":"2017","journal-title":"Blood"},{"key":"ref_16","doi-asserted-by":"crossref","first-page":"426","DOI":"10.1007\/s11899-018-0473-7","article-title":"Hereditary Myelodysplastic Syndrome and Acute Myeloid Leukemia: Diagnosis, Questions, and Controversies","volume":"13","author":"Akpan","year":"2018","journal-title":"Curr. Hematol. Malig. Rep."},{"key":"ref_17","doi-asserted-by":"crossref","first-page":"355","DOI":"10.1016\/j.cell.2018.03.039","article-title":"Pathogenic Germline Variants in 10,389 Adult Cancers","volume":"173","author":"Huang","year":"2018","journal-title":"Cell"},{"key":"ref_18","doi-asserted-by":"crossref","first-page":"10086","DOI":"10.1038\/ncomms10086","article-title":"Patterns and Functional Implications of Rare Germline Variants across 12 Cancer Types","volume":"6","author":"Lu","year":"2015","journal-title":"Nat. Commun."},{"key":"ref_19","doi-asserted-by":"crossref","first-page":"2282","DOI":"10.1038\/s41375-018-0049-5","article-title":"Germline Alterations in a Consecutive Series of Acute Myeloid Leukemia","volume":"32","author":"Hirvonen","year":"2018","journal-title":"Leukemia"},{"key":"ref_20","doi-asserted-by":"crossref","first-page":"1208","DOI":"10.1182\/blood.2021011354","article-title":"Identification and Prioritization of Myeloid Malignancy Germline Variants in a Large Cohort of Adult Patients with AML","volume":"139","author":"Yang","year":"2022","journal-title":"Blood"},{"key":"ref_21","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1182\/bloodadvances.2017013037","article-title":"Prognostic Tumor Sequencing Panels Frequently Identify Germ Line Variants Associated with Hereditary Hematopoietic Malignancies","volume":"2","author":"Drazer","year":"2018","journal-title":"Blood Adv."},{"key":"ref_22","doi-asserted-by":"crossref","first-page":"2391","DOI":"10.1182\/blood-2016-03-643544","article-title":"The 2016 Revision to the World Health Organization Classification of Myeloid Neoplasms and Acute Leukemia","volume":"127","author":"Arber","year":"2016","journal-title":"Blood."},{"key":"ref_23","doi-asserted-by":"crossref","first-page":"e321","DOI":"10.1097\/HS9.0000000000000321","article-title":"Nordic Guidelines for Germline Predisposition to Myeloid Neoplasms in Adults: Recommendations for Genetic Diagnosis, Clinical Management and Follow-Up","volume":"3","author":"Baliakas","year":"2019","journal-title":"Hemasphere"},{"key":"ref_24","doi-asserted-by":"crossref","first-page":"1345","DOI":"10.1182\/blood.2022016867","article-title":"Diagnosis and Management of AML in Adults: 2022 Recommendations from an International Expert Panel on Behalf of the ELN","volume":"140","author":"Wei","year":"2022","journal-title":"Blood"},{"key":"ref_25","doi-asserted-by":"crossref","first-page":"1703","DOI":"10.1038\/s41375-022-01613-1","article-title":"The 5th Edition of the World Health Organization Classification of Haematolymphoid Tumours: Myeloid and Histiocytic\/Dendritic Neoplasms","volume":"36","author":"Khoury","year":"2022","journal-title":"Leukemia"},{"key":"ref_26","doi-asserted-by":"crossref","first-page":"1200","DOI":"10.1182\/blood.2022015850","article-title":"International Consensus Classification of Myeloid Neoplasms and Acute Leukemias: Integrating Morphologic, Clinical, and Genomic Data","volume":"140","author":"Arber","year":"2022","journal-title":"Blood"},{"key":"ref_27","doi-asserted-by":"crossref","first-page":"81","DOI":"10.1053\/j.seminhematol.2017.05.002","article-title":"GATA2 Deficiency and Related Myeloid Neoplasms","volume":"54","author":"Wlodarski","year":"2017","journal-title":"Semin Hematol."},{"key":"ref_28","unstructured":"McGowan-Jordan, J., Simon, A., and Schmid, M. (2016). An International System for Human Cytogenetic Nomenclature, Karger."},{"key":"ref_29","doi-asserted-by":"crossref","first-page":"2653","DOI":"10.1182\/blood-2011-05-356352","article-title":"Mutations in GATA2 Are Associated with the Autosomal Dominant and Sporadic Monocytopenia and Mycobacterial Infection (MonoMAC) Syndrome","volume":"118","author":"Hsu","year":"2011","journal-title":"Blood"},{"key":"ref_30","doi-asserted-by":"crossref","first-page":"457","DOI":"10.1016\/j.biocel.2011.12.004","article-title":"GATA-2 Mediated Regulation of Normal Hematopoietic Stem\/Progenitor Cell Function, Myelodysplasia and Myeloid Leukemia","volume":"44","author":"Rodrigues","year":"2012","journal-title":"Int. J. Biochem. Cell Biol."},{"key":"ref_31","doi-asserted-by":"crossref","first-page":"477","DOI":"10.1182\/blood-2004-08-2989","article-title":"Haploinsufficiency of GATA-2 Perturbs Adult Hematopoietic Stem-Cell Homeostasis","volume":"106","author":"Rodrigues","year":"2005","journal-title":"Blood"},{"key":"ref_32","doi-asserted-by":"crossref","first-page":"4862","DOI":"10.1182\/blood-2008-01-136564","article-title":"GATA-2 Regulates Granulocyte-Macrophage Progenitor Cell Function","volume":"112","author":"Rodrigues","year":"2008","journal-title":"Blood"},{"key":"ref_33","doi-asserted-by":"crossref","first-page":"565","DOI":"10.1016\/j.exphem.2015.04.002","article-title":"Low-Level GATA2 Overexpression Promotes Myeloid Progenitor Self-Renewal and Blocks Lymphoid Differentiation in Mice","volume":"43","author":"Nandakumar","year":"2015","journal-title":"Exp. Hematol."},{"key":"ref_34","doi-asserted-by":"crossref","first-page":"31","DOI":"10.1016\/j.stemcr.2019.05.007","article-title":"Overexpression of GATA2 Enhances Development and Maintenance of Human Embryonic Stem Cell-Derived Hematopoietic Stem Cell-like Progenitors","volume":"13","author":"Zhou","year":"2019","journal-title":"Stem Cell Rep."},{"key":"ref_35","doi-asserted-by":"crossref","first-page":"291","DOI":"10.1016\/j.stemcr.2019.07.005","article-title":"Gata2 as a Crucial Regulator of Stem Cells in Adult Hematopoiesis and Acute Myeloid Leukemia","volume":"13","author":"Vukovic","year":"2019","journal-title":"Stem Cell Rep."},{"key":"ref_36","doi-asserted-by":"crossref","first-page":"e12","DOI":"10.1182\/blood-2013-03-490425","article-title":"Genome-Wide Analysis of Transcriptional Regulators in Human HSPCs Reveals a Densely Interconnected Network of Coding and Noncoding Genes","volume":"122","author":"Beck","year":"2013","journal-title":"Blood"},{"key":"ref_37","doi-asserted-by":"crossref","first-page":"754","DOI":"10.1016\/j.stem.2013.09.003","article-title":"Dynamic Analysis of Gene Expression and Genome-Wide Transcription Factor Binding during Lineage Specification of Multipotent Progenitors","volume":"13","author":"May","year":"2013","journal-title":"Cell Stem Cell"},{"key":"ref_38","doi-asserted-by":"crossref","first-page":"1399","DOI":"10.1002\/humu.24271","article-title":"GATA2 Deficiency Syndrome: A Decade of Discovery","volume":"42","author":"Homan","year":"2021","journal-title":"Hum. Mutat."},{"key":"ref_39","doi-asserted-by":"crossref","unstructured":"Bruzzese, A., Leardini, D., Masetti, R., Strocchio, L., Girardi, K., Algeri, M., del Baldo, G., Locatelli, F., and Mastronuzzi, A. (2020). GATA2 Related Conditions and Predisposition to Pediatric Myelodysplastic Syndromes. Cancers, 12.","DOI":"10.3390\/cancers12102962"},{"key":"ref_40","doi-asserted-by":"crossref","first-page":"173","DOI":"10.1111\/bjh.13317","article-title":"Haematopoietic and Immune Defects Associated with GATA2 Mutation","volume":"169","author":"Collin","year":"2015","journal-title":"Br. J. Haematol."},{"key":"ref_41","doi-asserted-by":"crossref","first-page":"809","DOI":"10.1182\/blood-2013-07-515528","article-title":"GATA2 Deficiency: A Protean Disorder of Hematopoiesis, Lymphatics, and Immunity","volume":"123","author":"Spinner","year":"2014","journal-title":"Blood"},{"key":"ref_42","doi-asserted-by":"crossref","first-page":"2673","DOI":"10.1038\/s41375-020-0899-5","article-title":"Synonymous GATA2 Mutations Result in Selective Loss of Mutated RNA and Are Common in Patients with GATA2 Deficiency","volume":"34","author":"Kozyra","year":"2020","journal-title":"Leukemia"},{"key":"ref_43","doi-asserted-by":"crossref","first-page":"1211","DOI":"10.1182\/blood-2018-03-837336","article-title":"A Novel Disease-Causing Synonymous Exonic Mutation in GATA2 Affecting RNA Splicing","volume":"132","author":"Wehr","year":"2018","journal-title":"Blood"},{"key":"ref_44","doi-asserted-by":"crossref","first-page":"4584","DOI":"10.1182\/bloodadvances.2020002953","article-title":"Human GATA2 Mutations and Hematologic Disease: How Many Paths to Pathogenesis?","volume":"4","author":"Bresnick","year":"2020","journal-title":"Blood Adv."},{"key":"ref_45","doi-asserted-by":"crossref","first-page":"3830","DOI":"10.1182\/blood-2012-08-452763","article-title":"GATA2 Haploinsufficiency Caused by Mutations in a Conserved Intronic Element Leads to MonoMAC Syndrome","volume":"121","author":"Hsu","year":"2013","journal-title":"Blood"},{"key":"ref_46","doi-asserted-by":"crossref","first-page":"1095","DOI":"10.1182\/bloodadvances.2021004311","article-title":"Gata2 +9.5 Enhancer Regulates Adult Hematopoietic Stem Cell Self-Renewal and T-Cell Development","volume":"6","author":"You","year":"2022","journal-title":"Blood Adv."},{"key":"ref_47","doi-asserted-by":"crossref","first-page":"2502","DOI":"10.1038\/s41375-018-0134-9","article-title":"GATA2 Monoallelic Expression Underlies Reduced Penetrance in Inherited GATA2-Mutated MDS\/AML","volume":"32","author":"Tawana","year":"2018","journal-title":"Leukemia"},{"key":"ref_48","doi-asserted-by":"crossref","first-page":"2076","DOI":"10.1073\/pnas.0711824105","article-title":"Gain-of-Function Mutation of GATA-2 in Acute Myeloid Transformation of Chronic Myeloid Leukemia","volume":"105","author":"Zhang","year":"2008","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_49","doi-asserted-by":"crossref","first-page":"1387","DOI":"10.1182\/blood-2015-09-669937","article-title":"Prevalence, Clinical Characteristics, and Prognosis of GATA2-Related Myelodysplastic Syndromes in Children and Adolescents","volume":"127","author":"Wlodarski","year":"2016","journal-title":"Blood"},{"key":"ref_50","doi-asserted-by":"crossref","first-page":"793","DOI":"10.1182\/bloodadvances.2021005065","article-title":"ASXL1 and STAG2 Are Common Mutations in GATA2 Deficiency Patients with Bone Marrow Disease and Myelodysplastic Syndrome","volume":"6","author":"West","year":"2022","journal-title":"Blood Adv."},{"key":"ref_51","doi-asserted-by":"crossref","first-page":"713","DOI":"10.1016\/j.hoc.2018.04.004","article-title":"Germline GATA2 Mutation and Bone Marrow Failure","volume":"32","author":"McReynolds","year":"2018","journal-title":"Hematol. Oncol. Clin. N. Am."},{"key":"ref_52","doi-asserted-by":"crossref","first-page":"890","DOI":"10.3324\/haematol.2011.054361","article-title":"Germ-Line GATA2 p.THR354MET Mutation in Familial Myelodysplastic Syndrome with Acquired Monosomy 7 and ASXL1 Mutation Demonstrating Rapid Onset and Poor Survival","volume":"97","author":"Renneville","year":"2012","journal-title":"Haematologica"},{"key":"ref_53","first-page":"100176","article-title":"Rapid Progression to AML in a Patient with Germline GATA2 Mutation and Acquired NRAS Q61K Mutation","volume":"12","author":"McReynolds","year":"2019","journal-title":"Leuk Res. Rep."},{"key":"ref_54","doi-asserted-by":"crossref","first-page":"443","DOI":"10.1182\/bloodadvances.2016002311","article-title":"Somatic Mutations in Children with GATA2-Associated Myelodysplastic Syndrome Who Lack Other Features of GATA2 Deficiency","volume":"1","author":"Fisher","year":"2017","journal-title":"Blood Adv."},{"key":"ref_55","doi-asserted-by":"crossref","first-page":"299","DOI":"10.1182\/blood.V126.23.299.299","article-title":"Somatic Genetic and Epigenetic Architecture of Myelodysplastic Syndromes Arising from GATA2 Deficiency","volume":"126","author":"Hirabayashi","year":"2015","journal-title":"Blood"},{"key":"ref_56","doi-asserted-by":"crossref","first-page":"2484","DOI":"10.1182\/blood-2015-04-641100","article-title":"Genomic Analysis of Germ Line and Somatic Variants in Familial Myelodysplasia\/Acute Myeloid Leukemia","volume":"126","author":"Churpek","year":"2015","journal-title":"Blood"},{"key":"ref_57","doi-asserted-by":"crossref","first-page":"42","DOI":"10.3324\/haematol.2014.113456","article-title":"Genomic Analysis of Bone Marrow Failure and Myelodysplastic Syndromes Reveals Phenotypic and Diagnostic Complexity","volume":"100","author":"Zhang","year":"2015","journal-title":"Haematologica"},{"key":"ref_58","doi-asserted-by":"crossref","first-page":"1343","DOI":"10.3324\/haematol.2016.149476","article-title":"Genetic Features of Myelodysplastic Syndrome and Aplastic Anemia in Pediatric and Young Adult Patients","volume":"101","author":"Keel","year":"2016","journal-title":"Haematologica"},{"key":"ref_59","doi-asserted-by":"crossref","first-page":"e398","DOI":"10.3324\/haematol.2015.127092","article-title":"GATA2 and Secondary Mutations in Familial Myelodysplastic Syndromes and Pediatric Myeloid Malignancies","volume":"100","author":"Wang","year":"2015","journal-title":"Haematologica"},{"key":"ref_60","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1111\/bjh.18330","article-title":"GATA2 Deficiency and MDS\/AML: Experimental Strategies for Disease Modelling and Future Therapeutic Prospects","volume":"199","author":"Kotmayer","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_61","doi-asserted-by":"crossref","unstructured":"Martignoles, J.A., Delhommeau, F., and Hirsch, P. (2018). Genetic Hierarchy of Acute Myeloid Leukemia: From Clonal Hematopoiesis to Molecular Residual Disease. Int. J. Mol. Sci., 19.","DOI":"10.3390\/ijms19123850"},{"key":"ref_62","doi-asserted-by":"crossref","first-page":"482","DOI":"10.1038\/leu.2012.174","article-title":"GATA2 Mutations Are Frequent in Intermediate-Risk Karyotype AML with Biallelic CEBPA Mutations and Are Associated with Favorable Prognosis","volume":"27","author":"Fasan","year":"2013","journal-title":"Leukemia"},{"key":"ref_63","doi-asserted-by":"crossref","first-page":"395","DOI":"10.1182\/blood-2012-01-403220","article-title":"GATA2 Zinc Finger 1 Mutations Associated with Biallelic CEBPA Mutations Define a Unique Genetic Entity of Acute Myeloid Leukemia","volume":"120","author":"Greif","year":"2012","journal-title":"Blood"},{"key":"ref_64","doi-asserted-by":"crossref","first-page":"2248","DOI":"10.1038\/leu.2016.185","article-title":"Clinical Impact of GATA2 Mutations in Acute Myeloid Leukemia Patients Harboring CEBPA Mutations: A Study of the AML Study Group","volume":"30","author":"Theis","year":"2016","journal-title":"Leukemia"},{"key":"ref_65","doi-asserted-by":"crossref","first-page":"2025","DOI":"10.1080\/10428194.2018.1551535","article-title":"Myeloid Malignancies with Somatic GATA2 Mutations Can Be Associated with an Immunodeficiency Phenotype","volume":"60","author":"Alfayez","year":"2019","journal-title":"Leuk Lymphoma"},{"key":"ref_66","doi-asserted-by":"crossref","first-page":"904","DOI":"10.1182\/bloodadvances.2017012617","article-title":"Can Somatic GATA2 Mutation Mimic Germ Line GATA2 Mutation?","volume":"2","author":"Sekhar","year":"2018","journal-title":"Blood Adv."},{"key":"ref_67","doi-asserted-by":"crossref","first-page":"510","DOI":"10.1080\/08880018.2020.1863536","article-title":"When to Suspect GATA2 Deficiency in Pediatric Patients: From Complete Blood Count to Diagnosis","volume":"38","author":"Saettini","year":"2021","journal-title":"Pediatr. Hematol. Oncol."},{"key":"ref_68","doi-asserted-by":"crossref","first-page":"929","DOI":"10.1038\/ng.923","article-title":"Mutations in GATA2 Cause Primary Lymphedema Associated with a Predisposition to Acute Myeloid Leukemia (Emberger Syndrome)","volume":"43","author":"Ostergaard","year":"2011","journal-title":"Nat. Genet."},{"key":"ref_69","doi-asserted-by":"crossref","first-page":"2656","DOI":"10.1182\/blood-2011-06-360313","article-title":"Exome Sequencing Identifies GATA-2 Mutation as the Cause of Dendritic Cell, Monocyte, B and NK Lymphoid Deficiency","volume":"118","author":"Dickinson","year":"2011","journal-title":"Blood"},{"key":"ref_70","doi-asserted-by":"crossref","first-page":"639","DOI":"10.1007\/s10875-020-00930-3","article-title":"Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance","volume":"41","author":"Rosain","year":"2021","journal-title":"J. Clin. Immunol."},{"key":"ref_71","doi-asserted-by":"crossref","first-page":"1278","DOI":"10.3324\/haematol.2017.181909","article-title":"Natural History of GATA2 Deficiency in a Survey of 79 French and Belgian Patients","volume":"103","author":"Donadieu","year":"2018","journal-title":"Haematologica"},{"key":"ref_72","doi-asserted-by":"crossref","first-page":"1283","DOI":"10.1182\/blood-2011-08-374363","article-title":"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","volume":"119","author":"Kazenwadel","year":"2012","journal-title":"Blood"},{"key":"ref_73","doi-asserted-by":"crossref","first-page":"183","DOI":"10.1007\/s12185-017-2258-5","article-title":"Myeloid Neoplasms with Germ Line RUNX1 Mutation","volume":"106","author":"Hayashi","year":"2017","journal-title":"Int. J. Hematol."},{"key":"ref_74","doi-asserted-by":"crossref","first-page":"18","DOI":"10.1186\/s13045-016-0382-y","article-title":"5\u2019UTR Point Substitutions and N-Terminal Truncating Mutations of ANKRD26 in Acute Myeloid Leukemia","volume":"10","author":"Marconi","year":"2017","journal-title":"J. Hematol. Oncol."},{"key":"ref_75","doi-asserted-by":"crossref","first-page":"189","DOI":"10.1007\/s12185-017-2259-4","article-title":"Germline ETV6 Mutations and Predisposition to Hematological Malignancies","volume":"106","author":"Feurstein","year":"2017","journal-title":"Int. J. Hematol."},{"key":"ref_76","doi-asserted-by":"crossref","first-page":"101278","DOI":"10.1016\/j.beha.2021.101278","article-title":"GATA2 and Marrow Failure","volume":"34","author":"Fabozzi","year":"2021","journal-title":"Best Pract. Res. Clin. Haematol."},{"key":"ref_77","doi-asserted-by":"crossref","first-page":"791","DOI":"10.1182\/bloodadvances.2020003401","article-title":"A Patient with a Germline GATA2 Mutation and Primary Myelofibrosis","volume":"5","author":"Haralambieva","year":"2021","journal-title":"Blood Adv."},{"key":"ref_78","doi-asserted-by":"crossref","first-page":"1806","DOI":"10.1038\/s41591-021-01511-6","article-title":"Clinical Evolution, Genetic Landscape and Trajectories of Clonal Hematopoiesis in SAMD9\/SAMD9L Syndromes","volume":"27","author":"Sahoo","year":"2021","journal-title":"Nat. Med."},{"key":"ref_79","doi-asserted-by":"crossref","first-page":"101197","DOI":"10.1016\/j.beha.2020.101197","article-title":"Germline Predisposition in Myeloid Neoplasms: Unique Genetic and Clinical Features of GATA2 Deficiency and SAMD9\/SAMD9L Syndromes","volume":"33","author":"Sahoo","year":"2020","journal-title":"Best Pract. Res. Clin. Haematol."},{"key":"ref_80","doi-asserted-by":"crossref","first-page":"886117","DOI":"10.3389\/fimmu.2022.886117","article-title":"GATA2 Deficiency in Adult Life Is Characterized by Phenotypic Diversity and Delayed Diagnosis","volume":"13","author":"Shamriz","year":"2022","journal-title":"Front. Immunol."},{"key":"ref_81","doi-asserted-by":"crossref","first-page":"2669","DOI":"10.1182\/blood-2012-09-453969","article-title":"Mutations in GATA2 Cause Human NK Cell Deficiency with Specific Loss of the CD56(Bright) Subset","volume":"121","author":"Mace","year":"2013","journal-title":"Blood"},{"key":"ref_82","doi-asserted-by":"crossref","first-page":"1065","DOI":"10.1189\/jlb.5MA0815-388R","article-title":"Altered Chemotactic Response to CXCL12 in Patients Carrying GATA2 Mutations","volume":"99","author":"Meuris","year":"2016","journal-title":"J. Leukoc Biol."},{"key":"ref_83","doi-asserted-by":"crossref","first-page":"56","DOI":"10.1182\/blood-2014-06-580340","article-title":"GATA2 Deficiency-Associated Bone Marrow Disorder Differs from Idiopathic Aplastic Anemia","volume":"125","author":"Ganapathi","year":"2015","journal-title":"Blood"},{"key":"ref_84","doi-asserted-by":"crossref","first-page":"707","DOI":"10.3324\/haematol.2015.137711","article-title":"Loss of B Cells and Their Precursors Is the Most Constant Feature of GATA-2 Deficiency in Childhood Myelodysplastic Syndrome","volume":"101","author":"Wlodarski","year":"2016","journal-title":"Haematologica"},{"key":"ref_85","doi-asserted-by":"crossref","first-page":"863","DOI":"10.1182\/blood-2013-07-517151","article-title":"The Evolution of Cellular Deficiency in GATA2 Mutation","volume":"123","author":"Dickinson","year":"2014","journal-title":"Blood"},{"key":"ref_86","doi-asserted-by":"crossref","first-page":"1519","DOI":"10.1182\/blood-2009-03-208629","article-title":"Autosomal Dominant and Sporadic Monocytopenia with Susceptibility to Mycobacteria, Fungi, Papillomaviruses, and Myelodysplasia","volume":"115","author":"Vinh","year":"2010","journal-title":"Blood"},{"key":"ref_87","doi-asserted-by":"crossref","first-page":"223","DOI":"10.1016\/j.jaci.2014.01.041","article-title":"Presence of Hypogammaglobulinemia and Abnormal Antibody Responses in GATA2 Deficiency","volume":"134","author":"Chou","year":"2014","journal-title":"J. Allergy Clin. Immunol."},{"key":"ref_88","doi-asserted-by":"crossref","first-page":"1112","DOI":"10.1097\/AOG.0000000000002905","article-title":"Vulvar Cancer as a Result of GATA2 Deficiency, a Rare Genetic Immunodeficiency Syndrome","volume":"132","author":"Toboni","year":"2018","journal-title":"Obstet. Gynecol."},{"key":"ref_89","doi-asserted-by":"crossref","first-page":"8305","DOI":"10.1038\/s41598-020-64852-1","article-title":"A Panoply of Rheumatological Manifestations in Patients with GATA2 Deficiency","volume":"10","author":"Amarnani","year":"2020","journal-title":"Sci. Rep."},{"key":"ref_90","doi-asserted-by":"crossref","first-page":"1350","DOI":"10.1016\/j.chest.2021.05.046","article-title":"Pulmonary Manifestations of GATA2 Deficiency","volume":"160","author":"Marciano","year":"2021","journal-title":"Chest"},{"key":"ref_91","first-page":"290","article-title":"Alveolar Proteinosis, Infectious Complications and Monocytopenia Associated with GATA2 Deficiency","volume":"41","author":"Aljubouri","year":"2021","journal-title":"Neuro Endocrinol. Lett."},{"key":"ref_92","doi-asserted-by":"crossref","first-page":"3715","DOI":"10.1182\/blood-2011-06-365049","article-title":"Successful Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency","volume":"118","author":"Freeman","year":"2011","journal-title":"Blood"},{"key":"ref_93","doi-asserted-by":"crossref","first-page":"1961","DOI":"10.1007\/s00277-018-3388-4","article-title":"Allogeneic Hematopoietic Cell Transplantation in Patients with GATA2 Deficiency-a Case Report and Comprehensive Review of the Literature","volume":"97","author":"Simonis","year":"2018","journal-title":"Ann. Hematol."},{"key":"ref_94","doi-asserted-by":"crossref","first-page":"2879","DOI":"10.1172\/JCI78888","article-title":"GATA2 Is Required for Lymphatic Vessel Valve Development and Maintenance","volume":"125","author":"Kazenwadel","year":"2015","journal-title":"J. Clin. Investig."},{"key":"ref_95","doi-asserted-by":"crossref","first-page":"286","DOI":"10.1007\/s12185-021-03130-w","article-title":"A Novel Germline GATA2 Frameshift Mutation with a Premature Stop Codon in a Family with Congenital Sensory Hearing Loss and Myelodysplastic Syndrome","volume":"114","author":"Nakazawa","year":"2021","journal-title":"Int. J. Hematol."},{"key":"ref_96","doi-asserted-by":"crossref","first-page":"333","DOI":"10.1111\/petr.12667","article-title":"Successful Reduced-Intensity Stem Cell Transplantation for GATA2 Deficiency before Progression of Advanced MDS","volume":"20","author":"Saida","year":"2016","journal-title":"Pediatr Transplant."},{"key":"ref_97","doi-asserted-by":"crossref","first-page":"1044","DOI":"10.1038\/s41467-020-14829-5","article-title":"The Complex Genetic Landscape of Familial MDS and AML Reveals Pathogenic Germline Variants","volume":"11","author":"Vulliamy","year":"2020","journal-title":"Nat. Commun."},{"key":"ref_98","doi-asserted-by":"crossref","first-page":"2732","DOI":"10.1038\/s41409-021-01374-y","article-title":"Hematopoietic Stem Cell Transplantation in Children and Adolescents with GATA2-Related Myelodysplastic Syndrome","volume":"56","author":"Bortnick","year":"2021","journal-title":"Bone Marrow Transplant."},{"key":"ref_99","doi-asserted-by":"crossref","first-page":"404","DOI":"10.1007\/s10875-021-01189-y","article-title":"A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT","volume":"42","author":"Buechner","year":"2022","journal-title":"J. Clin. Immunol."},{"key":"ref_100","doi-asserted-by":"crossref","first-page":"169","DOI":"10.1111\/bjh.17840","article-title":"Donor Source and Post-Transplantation Cyclophosphamide Influence Outcome in Allogeneic Stem Cell Transplantation for GATA2 Deficiency","volume":"196","author":"Parta","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_101","doi-asserted-by":"crossref","first-page":"1124","DOI":"10.1016\/j.bbmt.2020.02.015","article-title":"Comparison of Outcomes of Myeloablative Allogeneic Stem Cell Transplantation for Pediatric Patients with Bone Marrow Failure, Myelodysplastic Syndrome and Acute Myeloid Leukemia with and without Germline GATA2 Mutations","volume":"26","author":"Hofmann","year":"2020","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_102","doi-asserted-by":"crossref","first-page":"1940","DOI":"10.1016\/j.bbmt.2014.08.004","article-title":"Nonmyeloablative Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency","volume":"20","author":"Grossman","year":"2014","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_103","doi-asserted-by":"crossref","first-page":"1250","DOI":"10.1016\/j.bbmt.2018.01.030","article-title":"Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen","volume":"24","author":"Parta","year":"2018","journal-title":"Biol Blood Marrow Transplant."},{"key":"ref_104","doi-asserted-by":"crossref","first-page":"435.e1","DOI":"10.1016\/j.jtct.2020.12.028","article-title":"Hematopoietic Cell Transplantation and Outcomes Related to Human Papillomavirus Disease in GATA2 Deficiency","volume":"27","author":"Parta","year":"2021","journal-title":"Transplant. Cell Ther."},{"key":"ref_105","doi-asserted-by":"crossref","first-page":"768","DOI":"10.1111\/bjh.16247","article-title":"GATA2 Deficiency and Haematopoietic Stem Cell Transplantation: Challenges for the Clinical Practitioner","volume":"188","author":"Bogaert","year":"2020","journal-title":"Br. J. Haematol."},{"key":"ref_106","doi-asserted-by":"crossref","first-page":"1888","DOI":"10.1016\/j.bbmt.2016.06.018","article-title":"Preemptive Bone Marrow Transplantation and Event-Free Survival in Fanconi Anemia","volume":"22","author":"Khan","year":"2016","journal-title":"Biol. Blood Marrow Transplant."},{"key":"ref_107","doi-asserted-by":"crossref","first-page":"424","DOI":"10.1182\/blood-2017-02-735290","article-title":"Genetic Predisposition to Hematologic Malignancies: Management and Surveillance","volume":"130","author":"Godley","year":"2017","journal-title":"Blood"},{"key":"ref_108","doi-asserted-by":"crossref","first-page":"2098","DOI":"10.1200\/JCO.19.00181","article-title":"Stopping Leukemia in Its Tracks: Should Preemptive Hematopoietic Stem-Cell Transplantation Be Offered to Patients at Increased Genetic Risk for Acute Myeloid Leukemia?","volume":"37","author":"Hamilton","year":"2019","journal-title":"J. Clin. Oncol."},{"key":"ref_109","doi-asserted-by":"crossref","first-page":"13","DOI":"10.1111\/bjh.17859","article-title":"Finding the Best Haematopoietic Stem Cell Transplant Regimen for GATA2 Haploinsufficiency: How Close Are We?","volume":"196","author":"Connelly","year":"2022","journal-title":"Br. J. Haematol."},{"key":"ref_110","doi-asserted-by":"crossref","first-page":"1272","DOI":"10.1182\/blood-2018-02-826461","article-title":"HSCT for GATA2 Deficiency across the Pond","volume":"131","author":"Hickstein","year":"2018","journal-title":"Blood"},{"key":"ref_111","doi-asserted-by":"crossref","first-page":"13641","DOI":"10.1073\/pnas.1108440108","article-title":"Genetic Framework for GATA Factor Function in Vascular Biology","volume":"108","author":"Linnemann","year":"2011","journal-title":"Proc. Natl. Acad. Sci. USA"},{"key":"ref_112","doi-asserted-by":"crossref","first-page":"3692","DOI":"10.1172\/JCI61623","article-title":"Cis-Element Mutated in GATA2-Dependent Immunodeficiency Governs Hematopoiesis and Vascular Integrity","volume":"122","author":"Johnson","year":"2012","journal-title":"J. Clin. Investig."},{"key":"ref_113","doi-asserted-by":"crossref","first-page":"e28374","DOI":"10.1002\/pbc.28374","article-title":"Humoral Deficiency in a Novel GATA2 Mutation: A New Clinical Presentation Successfully Treated with Hematopoietic Stem Cell Transplantation","volume":"67","author":"Portich","year":"2020","journal-title":"Pediatr. Blood Cancer"},{"key":"ref_114","doi-asserted-by":"crossref","first-page":"65","DOI":"10.4274\/tjod.galenos.2021.53050","article-title":"Gynecologic Manifestations in Emberger Syndrome","volume":"18","author":"Zafer","year":"2021","journal-title":"Turk. J. Obstet Gynecol."},{"key":"ref_115","doi-asserted-by":"crossref","first-page":"598","DOI":"10.1053\/j.seminoncol.2016.10.003","article-title":"Genetic Predisposition to Leukemia and Other Hematologic Malignancies","volume":"43","author":"Feurstein","year":"2016","journal-title":"Semin Oncol."}],"container-title":["Cancers"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.mdpi.com\/2072-6694\/15\/5\/1590\/pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,10,10]],"date-time":"2025-10-10T18:47:16Z","timestamp":1760122036000},"score":1,"resource":{"primary":{"URL":"https:\/\/www.mdpi.com\/2072-6694\/15\/5\/1590"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2023,3,3]]},"references-count":115,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2023,3]]}},"alternative-id":["cancers15051590"],"URL":"https:\/\/doi.org\/10.3390\/cancers15051590","relation":{},"ISSN":["2072-6694"],"issn-type":[{"value":"2072-6694","type":"electronic"}],"subject":[],"published":{"date-parts":[[2023,3,3]]}}}