Research & Literature

GATA2 is required for lymphatic vessel valve development and maintenance.

Kazenwadel J, Betterman KL, Chong CE, et al.

The Journal of clinical investigation 2015; (125(8)):2979-94.

Successful reduced-intensity stem cell transplantation for GATA2 deficiency before progression of advanced MDS.

Saida S, Umeda K, Yasumi T, et al.

Pediatric transplantation 2016; (20(2)):333-6 doi:10.1111/petr.12667.

Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome.

Nováková M, Žaliová M, Suková M, et al.

Haematologica 2016; (101(6)):707-16 doi:10.3324/haematol.2015.137711.

GATA2 regulates dendritic cell differentiation.

Onodera K, Fujiwara T, Onishi Y, et al.

Blood 2016; (128(4)):508-18 doi:10.1182/blood-2016-02-698118.

[Lymphedema: From diagnosis to treatment].

Vignes S

La Revue de medecine interne 2017; (38(2)):97-105 doi:10.1016/j.revmed.2016.07.005.

Mediastinal and Disseminated Mycobacterium kansasii Disease in GATA2 Deficiency.

Lovell JP, Zerbe CS, Olivier KN, et al.

Annals of the American Thoracic Society 2016; (13(12)):2169-2173 doi:10.1513/AnnalsATS.201603-207BC.

Paediatric lymphoedema: A retrospective chart review of 86 cases.

Watt H, Singh-Grewal D, Wargon O, Adams S

Journal of paediatrics and child health 2017; (53(1)):38-42 doi:10.1111/jpc.13305.

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

Schlums H, Jung M, Han H, et al.

Blood 2017; (129(14)):1927-1939 doi:10.1182/blood-2016-08-734236.

GATA2 null mutation associated with incomplete penetrance in a family with Emberger syndrome.

Brambila-Tapia AJL, García-Ortiz JE, Brouillard P, et al.

Hematology (Amsterdam, Netherlands) 2017; (22(8)):467-471 doi:10.1080/10245332.2017.1294551.

Allogeneic Hematopoietic Cell Transplantation Using Treosulfan-Based Conditioning for Treatment of Marrow Failure Disorders.

Burroughs LM, Shimamura A, Talano JA, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2017; (23(10)):1669-1677 doi:10.1016/j.bbmt.2017.06.002.

GATA2 deficiency and related myeloid neoplasms.

Wlodarski MW, Collin M, Horwitz MS

Seminars in hematology 2017; (54(2)):81-86 doi:10.1053/j.seminhematol.2017.05.002.

[Primary lymphedema in childhood].

Vignes S, Vidal F, Arrault M, Boccara O

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2017; (24(8)):766-776 doi:10.1016/j.arcped.2017.05.002.

Successful Nonmyeloablative Allogeneic Stem Cell Transplant in a Child With Emberger Syndrome and GATA2 Mutation.

Rastogi N, Abraham RS, Chadha R, et al.

Journal of pediatric hematology/oncology 2018; (40(6)):e383-e388 doi:10.1097/MPH.0000000000000995.

An approach to familial lymphoedema.

Jones GE, Mansour S

Clinical medicine (London, England) 2017; (17(6)):552-557 doi:10.7861/clinmedicine.17-6-552.

Allogeneic Hematopoietic Stem Cell Transplantation for GATA2 Deficiency Using a Busulfan-Based Regimen.

Parta M, Shah NN, Baird K, et al.

Biology of blood and marrow transplantation : journal of the American Society for Blood and Marrow Transplantation 2018; (24(6)):1250-1259 doi:10.1016/j.bbmt.2018.01.030.

Oocyte cryopreservation for women with GATA2 deficiency.

Zolton JR, Parikh TP, Hickstein DD, et al.

Journal of assisted reproduction and genetics 2018; (35(7)):1201-1207 doi:10.1007/s10815-018-1146-0.

Emberger syndrome: A rare association with hearing loss.

Zawawi F, Sokolov M, Mawby T, et al.

International journal of pediatric otorhinolaryngology 2018; (108()):82-84 doi:10.1016/j.ijporl.2018.02.014.

A Rare Case of Emberger Syndrome Caused By a De Novo Mutation in the GATA2 Gene.

Michelini S, Cardone M, Haag M, et al.

Lymphology 2016; (49(1)):15-20.

Germline GATA2 Mutation and Bone Marrow Failure.

McReynolds LJ, Calvo KR, Holland SM

Hematology/oncology clinics of North America 2018; (32(4)):713-728 doi:10.1016/j.hoc.2018.04.004.

Acquired and germline predisposition to bone marrow failure: Diagnostic features and clinical implications.

Kallen ME, Dulau-Florea A, Wang W, Calvo KR

Seminars in hematology 2019; (56(1)):69-82 doi:10.1053/j.seminhematol.2018.05.016.

MDS-associated mutations in germline GATA2 mutated patients with hematologic manifestations.

McReynolds LJ, Yang Y, Yuen Wong H, et al.

Leukemia research 2019; (76()):70-75 doi:10.1016/j.leukres.2018.11.013.

Rapid progression to AML in a patient with germline GATA2 mutation and acquired NRAS Q61K mutation.

McReynolds LJ, Zhang Y, Yang Y, et al.

Leukemia research reports 2019; (12()):100176 doi:10.1016/j.lrr.2019.100176.

MYH9-related disease: it does exist, may be more frequent than you think and requires specific therapy.

Fernandez-Prado R, Carriazo-Julio SM, Torra R, et al.

Clinical kidney journal 2019; (12(4)):488-493 doi:10.1093/ckj/sfz103.

[Congenital deaf-mutism with pale complexion and anemia for 1 year in a school-aged girl].

Chen LL, He XL, Chen KK

Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics 2019; (21(11)):1105-1109.

Monitoring and treatment of MDS in genetically susceptible persons.

Davies SM

Hematology. American Society of Hematology. Education Program 2019; (2019(1)):105-109 doi:10.1182/hematology.2019000020.

A compression device versus compression stockings in long-term therapy of lower limb primary lymphoedema after liposuction.

Karafa M, Karafová A, Szuba A

Journal of wound care 2020; (29(1)):28-35 doi:10.12968/jowc.2020.29.1.28.

Familial macro thrombocytopenia: role of genetics where morphology fails.

Chaudhary H, Jindal A, Guleria S, et al.

Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis 2020; (31(5)):333-334 doi:10.1097/MBC.0000000000000923.

Linking the Landscape of MYH9-Related Diseases to the Molecular Mechanisms that Control Non-Muscle Myosin II-A Function in Cells.

Asensio-Juárez G, Llorente-González C, Vicente-Manzanares M

Cells 2020; (9(6)) doi:10.3390/cells9061458.

Sequencing of RNA in single cells reveals a distinct transcriptome signature of hematopoiesis in GATA2 deficiency.

Wu Z, Gao S, Diamond C, et al.

Blood advances 2020; (4(12)):2656-2670 doi:10.1182/bloodadvances.2019001352.

Donor-derived myelodysplastic syndrome after allogeneic stem cell transplantation in a family with germline GATA2 mutation.

Sakata N, Okano M, Masako R, et al.

International journal of hematology 2021; (113(2)):290-296 doi:10.1007/s12185-020-02980-0.

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

Blanco ML, Torrent M, Bussaglia E, et al.

Clinical case reports 2020; (8(12)):3193-3197 doi:10.1002/ccr3.3304.

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

Jensen MLN, Mathiasen VD, Ifversen M, Nielsen JSA

BMJ case reports 2020; (13(12)) doi:10.1136/bcr-2020-236521.

Primary lymphedema French National Diagnosis and Care Protocol (PNDS; Protocole National de Diagnostic et de Soins).

Vignes S, Albuisson J, Champion L, et al.

Orphanet journal of rare diseases 2021; (16(1)):18 doi:10.1186/s13023-020-01652-w.

Inherited GATA2 Deficiency Is Dominant by Haploinsufficiency and Displays Incomplete Clinical Penetrance.

Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, et al.

Journal of clinical immunology 2021; (41(3)):639-657 doi:10.1007/s10875-020-00930-3.

A novel germline GATA2 frameshift mutation with a premature stop codon in a family with congenital sensory hearing loss and myelodysplastic syndrome.

Nakazawa H, Yamaguchi T, Sakai H, et al.

International journal of hematology 2021; (114(2)):286-291 doi:10.1007/s12185-021-03130-w.

High penetrance of myeloid neoplasia with diverse clinical and cytogenetic features in three siblings with a familial GATA2 deficiency.

Ellingford JM, Telford N, Urquhart J, et al.

Cancer genetics 2021; (256-257()):77-80 doi:10.1016/j.cancergen.2021.04.002.

Hematopoietic Cell Transplantation and Outcomes Related to Human Papillomavirus Disease in GATA2 Deficiency.

Parta M, Cole K, Avila D, et al.

Transplantation and cellular therapy 2021; (27(5)):435.e1-435.e11 doi:10.1016/j.jtct.2020.12.028.

Pulmonary Manifestations of GATA2 Deficiency.

Marciano BE, Olivier KN, Folio LR, et al.

Chest 2021; (160(4)):1350-1359 doi:10.1016/j.chest.2021.05.046.

Single-cell ATAC-seq reveals GATA2-dependent priming defect in myeloid and a maturation bottleneck in lymphoid lineages.

Avagyan S, Weber MC, Ma S, et al.

Blood advances 2021; (5(13)):2673-2686 doi:10.1182/bloodadvances.2020002992.

Fertility preservation before hematopoetic stem cell transplantation: a case series of women with GATA binding protein 2 deficiency, dedicator of cytokinesis 8 deficiency, and sickle cell disease.

Aserlind A, Martini A, Dong J, et al.

F&S reports 2020; (1(3)):287-293 doi:10.1016/j.xfre.2020.10.001.

Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome.

Bortnick R, Wlodarski M, de Haas V, et al.

Bone marrow transplantation 2021; (56(11)):2732-2741 doi:10.1038/s41409-021-01374-y.

miR-181c regulates MCL1 and cell survival in GATA2 deficient cells.

Wang W, Chen R, Droll S, et al.

Journal of leukocyte biology 2022; (111(4)):805-816 doi:10.1002/JLB.2A1220-824R.

GATA2 deficiency syndrome: A decade of discovery.

Homan CC, Venugopal P, Arts P, et al.

Human mutation 2021; (42(11)):1399-1421 doi:10.1002/humu.24271.

GATA2 and marrow failure.

Fabozzi F, Strocchio L, Mastronuzzi A, Merli P

Best practice & research. Clinical haematology 2021; (34(2)):101278 doi:10.1016/j.beha.2021.101278.

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

West RR, Calvo KR, Embree LJ, et al.

Blood advances 2022; (6(3)):793-807 doi:10.1182/bloodadvances.2021005065.

Donor source and post-transplantation cyclophosphamide influence outcome in allogeneic stem cell transplantation for GATA2 deficiency.

Nichols-Vinueza DX, Parta M, Shah NN, et al.

British journal of haematology 2022; (196(1)):169-178 doi:10.1111/bjh.17840.

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

Shamriz O, Zahalka N, Simon AJ, et al.

Frontiers in immunology 2022; (13()):886117 doi:10.3389/fimmu.2022.886117.

GATA 2 Deficiency: Focus on Immune System Impairment.

Fabozzi F, Mastronuzzi A, Ceglie G, et al.

Frontiers in immunology 2022; (13()):865773 doi:10.3389/fimmu.2022.865773.

Case report: Successful allogeneic stem cell transplantation in a child with novel GATA2 defect associated B-cell acute lymphoblastic leukemia.

Heropolitańska-Pliszka E, Piątosa B, Szmydki-Baran A, et al.

Frontiers in immunology 2022; (13()):928529 doi:10.3389/fimmu.2022.928529.

[GATA2 gene mutations: 3 cases].

Perrard N, Pokeerbux MR, Quesnel B, et al.

La Revue de medecine interne 2022; (43(11)):677-682 doi:10.1016/j.revmed.2022.08.007.

The spectrum of GATA2 deficiency syndrome.

Calvo KR, Hickstein DD

Blood 2023; (141(13)):1524-1532 doi:10.1182/blood.2022017764.

Somatic genetic alterations predict hematological progression in GATA2 deficiency.

Largeaud L, Collin M, Monselet N, et al.

Haematologica 2023; (108(6)):1515-1529 doi:10.3324/haematol.2022.282250.

The Clinical Spectrum, Diagnosis, and Management of GATA2 Deficiency.

Santiago M, Liquori A, Such E, et al.

Cancers 2023; (15(5)) doi:10.3390/cancers15051590.

GATA2 Deficiency: Predisposition to Myeloid Malignancy and Hematopoietic Cell Transplantation.

Rajput RV, Arnold DE

Current hematologic malignancy reports 2023; (18(4)):89-97 doi:10.1007/s11899-023-00695-7.

Inherited bone marrow failure syndromes and germline predisposition to myeloid neoplasia: A practical approach for the pathologist.

Li J, Bledsoe JR

Seminars in diagnostic pathology 2023; (40(6)):429-442 doi:10.1053/j.semdp.2023.06.006.

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.

Chiu CY, Matsuo T, Wurster S, et al.

Mycoses 2023; (66(12)):1029-1034 doi:10.1111/myc.13638.

Extensive dental caries and periodontal disease in a child with GATA2 deficiency.

Consonni F, Gambineri E, Veltroni M, Callea M

Journal of clinical and experimental dentistry 2023; (15(9)):e787-e790 doi:10.4317/jced.60345.

The VASCERN PPL working group patient pathway for primary and paediatric lymphoedema.

Devoogdt N, Thomis S, Belva F, et al.

European journal of medical genetics 2024; (67()):104905 doi:10.1016/j.ejmg.2023.104905.

[Allogeneic hematopoietic stem cell transplantation in a patient with MonoMAC syndrome and hematopoietic dysplasia which was induced by GATA2 deficiency: a case report and literature review].

Zhao YF, Shi JM, Fu HR, et al.

Zhonghua xue ye xue za zhi = Zhonghua xueyexue zazhi 2024; (45(4)):401-405 doi:10.3760/cma.j.cn121090-20231013-00199.

The different faces of GATA2 deficiency: implications for therapy and surveillance.

Vinci L, Strahm B, Speckmann C, Erlacher M

Frontiers in oncology 2024; (14()):1423856 doi:10.3389/fonc.2024.1423856.

Long-term outcome after allogeneic stem cell transplantation for GATA2 deficiency: An analysis of 67 adults and children from France and Belgium.

Sicre de Fontbrune F, Chevillon F, Fahd M, et al.

British journal of haematology 2026; (208(1)):250-258 doi:10.1111/bjh.19691.

Evaluation of recurrent and recalcitrant warts in a deaf adolescent male reveals GATA2 deficiency.

Doan DT, Strebeck PV, Tran AD, et al.

The journal of allergy and clinical immunology. Global 2024; (3(4)):100313 doi:10.1016/j.jacig.2024.100313.

Human papillomavirus disease in GATA2 deficiency: a genetic predisposition to HPV-associated female anogenital malignancy.

Dancy E, Stratton P, Pichard DC, et al.

Frontiers in immunology 2024; (15()):1445711 doi:10.3389/fimmu.2024.1445711.

GATA2 deficiency and hemophagocytic lymphohistiocytosis (HLH): a systematic review of reported cases.

Rukerd MRZ, Mirkamali H, Nakhaie M, Alizadeh SD

BMC infectious diseases 2024; (24(1)):1239 doi:10.1186/s12879-024-10145-1.

GATA2 mutated allele specific expression is associated with a hyporesponsive state of HSC in GATA2 deficiency syndrome.

Largeaud L, Fregona V, Jamrog LA, et al.

Blood cancer journal 2025; (15(1)):7 doi:10.1038/s41408-025-01213-z.

[Lymphedema].

Mühlberg KS

Deutsche medizinische Wochenschrift (1946) 2025; (150(6)):253-259 doi:10.1055/a-2361-0838.

GATA2 Deficiency With Early-Onset and Progressive Interstitial Lung Disease.

Sugiura Y, Ando T, Urushiyama H, et al.

Respirology case reports 2025; (13(4)):e70165 doi:10.1002/rcr2.70165.

A pluripotent stem cell model of Emberger syndrome reveals reduced lymphatic endothelial differentiation.

Kouzuki K, Umeda K, Hamabata T, et al.

International journal of hematology 2025; (122(4)):590-597 doi:10.1007/s12185-025-04004-1.

Germline and somatic genetic landscape of pediatric myelodysplastic syndromes.

Kotmayer L, Kennedy AL, Wlodarski MW

Haematologica 2025; (110(9)):1974-1986 doi:10.3324/haematol.2024.285700.

Age-dependent phenotypic and molecular evolution of pediatric MDS arising from GATA2 deficiency.

Kotmayer L, Kozyra EJ, Kang G, et al.

Blood cancer journal 2025; (15(1)):121 doi:10.1038/s41408-025-01309-6.

Impaired DNA damage responses and inflammatory signaling underpin hematopoietic stem cell defects in Gata2 haploinsufficiency.

Abdelfattah A, Habib A, Thomas LA, et al.

Stem cell reports 2025; (20(8)):102596 doi:10.1016/j.stemcr.2025.102596.

CRISPR-engineered human GATA2 deficiency model uncovers mitotic dysfunction and premature aging in HSPCs, impairing hematopoietic fitness.

Romero-Moya D, Torralba-Sales E, Calvo C, et al.

Leukemia 2025; (39(12)):3015-3025 doi:10.1038/s41375-025-02771-8.

Clinical relevance of mosaic variants detected by exome sequencing.

Ghosh R, Fazal Z, Oler AJ, et al.

The Journal of allergy and clinical immunology 2026; (157(5)):1195-1205 doi:10.1016/j.jaci.2026.02.011.

GATA2 Deficiency Syndrome: A Case Series and Literature Review.

Dong Z, Lai J, Li J, et al.

Journal of clinical immunology 2026; (46(1)).

Common cutaneous signs unmasking a severe hematological disorder: GATA2 deficiency.

Boukamza F, El Jouari O, Hacht F, et al.

Dermatology online journal 2026; (31(6)) doi:10.25251/bja9kb72.

Co-occurrence of GATA2 deficiency and probable constitutional mosaic STAG2 alteration in a young adult with myelodysplastic syndrome: a case report.

Calugaru OT, Coriu D, Jardan C, et al.

Frontiers in medicine 2026; (13()):1935947 doi:10.3389/fmed.2026.1935947.

Trying to disentangle the causes of dyspnea and exercise limitation in a subject with GATA2 deficiency and normal spirometry: a case report.

Barisione G, Di Grazia C, Raiola AM, et al.

Frontiers in physiology 2026; (17()):1846805 doi:10.3389/fphys.2026.1846805.