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Original Article: Clinical

Myeloid malignancies with somatic GATA2 mutations can be associated with an immunodeficiency phenotype

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Pages 2025-2033 | Received 02 Aug 2018, Accepted 17 Nov 2018, Published online: 16 Jan 2019

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Waner Wu, Na Xu, Xuan Zhou, Liang Liu, Yaxian Tan, Jie Luo, Jixian Huang, Jiayue Qin, Juan Wang, Zhimin Li, Changxin Yin, Lingling Zhou & Xiaoli Liu. (2020) Integrative Genomic Analysis Reveals Cancer-Associated Gene Mutations in Chronic Myeloid Leukemia Patients with Resistance or Intolerance to Tyrosine Kinase Inhibitor. OncoTargets and Therapy 13, pages 8581-8591.
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Chia‐Yu Chiu, Takahiro Matsuo, Sebastian Wurster, Yoheved Gerstein, Danielle E. Hammond, Kelly S. Chien, Courtney DiNardo & Dimitrios P. Kontoyiannis. (2023) Invasive mucorales sinusitis in a young patient with Emberger syndrome and newly diagnosed AML : A case report and literature review of invasive fungal infections in GATA2 deficiency . Mycoses 66:12, pages 1029-1034.
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Robert R. West, Thomas R. BauerJr.Jr., Laura M. Tuschong, Lisa J. Embree, Katherine R. Calvo, Desiree Tillo, Joie Davis, Steven M. Holland & Dennis D. Hickstein. (2023) A novel GATA2 distal enhancer mutation results in MonoMAC syndrome in 2 second cousins . Blood Advances 7:20, pages 6351-6363.
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Marta Santiago, Alessandro Liquori, Esperanza Such, Ángel Zúñiga & José Cervera. (2023) The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency. Cancers 15:5, pages 1590.
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Hussam Tabaja, Kelsey L Jensen, Christina G Rivera, Anisha Misra, Rajiv K Pruthi & Paschalis Vergidis. (2022) Multiple Simultaneous Infections With Nontuberculous Mycobacteria in the Setting of GATA2 Mutation and Myelodysplastic Syndrome . Open Forum Infectious Diseases 9:7.
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Robert R. West, Katherine R. CalvoLisa J. EmbreeWeixin WangLaura M. TuschongThomas R. BauerJrJr, Desiree Tillo, Justin Lack, Stephenie Droll, Amy P. Hsu, Steven M. Holland & Dennis D. Hickstein. (2022) ASXL1 and STAG2 are common mutations in GATA2 deficiency patients with bone marrow disease and myelodysplastic syndrome . Blood Advances 6:3, pages 793-807.
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Fang Fang, Jing Xu, Yefang Kang, Huanying Ren, Daniel Muteb Muyey, Xiuhua Chen, Yanhong Tan, Zhifang Xu & Hongwei Wang. (2021) GATA2 rs2335052 and GATA2 rs78245253 single‐nucleotide polymorphisms in Chinese patients with acute myelocytic leukemia . International Journal of Laboratory Hematology 43:6, pages 1491-1500.
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Rahul S. Vedula, Matthew P. Cheng, Christine E. Ronayne, Dimitrios Farmakiotis, Vincent T. HoSophia KooFrancisco M. Marty, R. Coleman Lindsley & Tyler D. Bold. (2021) Somatic GATA2 mutations define a subgroup of myeloid malignancy patients at high risk for invasive fungal disease. Blood Advances 5:1, pages 54-60.
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Cansu Koyunlar & Emma de Pater. (2020) From Basic Biology to Patient Mutational Spectra of GATA2 Haploinsufficiencies: What Are the Mechanisms, Hurdles, and Prospects of Genome Editing for Treatment. Frontiers in Genome Editing 2.
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Emery H. Bresnick, Mabel M. Jung & Koichi R. Katsumura. (2020) Human GATA2 mutations and hematologic disease: how many paths to pathogenesis?. Blood Advances 4:18, pages 4584-4592.
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Sushree S. Sahoo, Emilia J. Kozyra & Marcin W. Wlodarski. (2020) Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes. Best Practice & Research Clinical Haematology 33:3, pages 101197.
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