Hsu AP, McReynolds LJ, Holland SM. GATA2 deficiency. Curr Opin Allergy Clin Immunol. 2015;15(1):104–9. https://doi.org/10.1097/ACI.0000000000000126.
Article CAS PubMed PubMed Central Google Scholar
Vicente C, Conchillo A, García-Sánchez MA, Odero MD. The role of the GATA2 transcription factor in normal and malignant hematopoiesis. Crit Rev Oncol Hematol. 2012;82(1):1–17. https://doi.org/10.1016/j.critrevonc.2011.04.007.
Hsu AP, Sampaio EP, Khan J, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653–5.
Article CAS PubMed PubMed Central Google Scholar
Dickinson RE, Griffin H, Bigley V, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011;118(10):2656–8.
Article CAS PubMed Google Scholar
Hahn CN, Chong CE, Carmichael CL, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012–7.
Article CAS PubMed PubMed Central Google Scholar
Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011;43(10):929–31.
Article CAS PubMed Google Scholar
Homan CC, Venugopal P, Arts P, et al. GATA2 deficiency syndrome: A decade of discovery. Hum Mutat. 2021;42(11):1399–421. https://doi.org/10.1002/humu.24271.
Article CAS PubMed PubMed Central Google Scholar
Spinner MA, Sanchez LA, Hsu AP, et al. GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809–21. https://doi.org/10.1182/blood-2013-07-515528.
Article CAS PubMed PubMed Central Google Scholar
Donadieu J, Lamant M, Fieschi C, et al. Natural history of GATA2 deficiency in a survey of 79 French and Belgian patients. Haematologica. 2018;103(8):1278–87. https://doi.org/10.3324/haematol.2017.181909.
Article CAS PubMed PubMed Central Google Scholar
Jørgensen SF, Buechner J, Myhre AE. A Nationwide Study of GATA2 Deficiency in Norway-the Majority of Patients Have Undergone Allo-HSCT. J Clin Immunol. 2022;42(2):404–20. https://doi.org/10.1007/s10875-021-01189-y.
Article CAS PubMed Google Scholar
Wlodarski MW, Collin M, Horwitz MS. GATA2 deficiency and related myeloid neoplasms. Semin Hematol. 2017;54(2):81–6. https://doi.org/10.1053/j.seminhematol.2017.05.002.
Article PubMed PubMed Central Google Scholar
Wlodarski MW, Hirabayashi S, Pastor V, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplastic syndromes in children and adolescents. Blood. 2016;127(11):1387–97. https://doi.org/10.1182/blood-2015-09-669937.
Article CAS PubMed Google Scholar
Collin M, Dickinson R, Bigley V. Haematopoietic and immune defects associated with GATA2 mutation. Br J Haematol. 2015;169(2):173–87. https://doi.org/10.1111/bjh.13317.
Article CAS PubMed PubMed Central Google Scholar
Nováková M, Žaliová M, Suková M, et al. Loss of B cells and their precursors is the most constant feature of GATA-2 deficiency in childhood myelodysplastic syndrome. Haematologica. 2016;101(6):707–16. https://doi.org/10.3324/haematol.2015.137711.
Article CAS PubMed PubMed Central Google Scholar
Hickstein D. HSCT for GATA2 deficiency across the pond. Blood. 2018;131(12):1272–4. https://doi.org/10.1182/blood-2018-02-826461.
Article CAS PubMed PubMed Central Google Scholar
Sahoo SS, Kozyra EJ, Wlodarski MW. Germline predisposition in myeloid neoplasms: Unique genetic and clinical features of GATA2 deficiency and SAMD9/SAMD9L syndromes. Best Pract Res Clin Haematol. 2020;33(3):101197. https://doi.org/10.1016/j.beha.2020.101197.
Article PubMed PubMed Central Google Scholar
Kozyra EJ, Pastor VB, Lefkopoulos S, et al. Synonymous GATA2 mutations result in selective loss of mutated RNA and are common in patients with GATA2 deficiency. Leukemia. 2020;34(10):2673–87. https://doi.org/10.1038/s41375-020-0899-5.
Article CAS PubMed PubMed Central Google Scholar
Hsu AP, Johnson KD, Falcone EL, et al. GATA2 haploinsufficiency caused by mutations in a conserved intronic element leads to MonoMAC syndrome. Blood. 2013;121(19):3830–7, S1–7. https://doi.org/10.1182/blood-2012-08-452763.
Chong C-E, Venugopal P, Stokes PH, et al. Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes. Leukemia. 2018;32(1):194–202. https://doi.org/10.1038/leu.2017.196.
Article CAS PubMed Google Scholar
Oleaga-Quintas C, de Oliveira-Júnior EB, Rosain J, et al. Inherited GATA2 deficiency is dominant by Haploinsufficiency and displays incomplete clinical penetrance. Clin Immunol. 2021;41(3):639–57. https://doi.org/10.1007/s10875-020-00930-3.
Bruzzese A, Leardini D, Masetti R, et al. GATA2 related conditions and predisposition to pediatric myelodysplastic syndromes. Cancers (Basel). 2020;12(10):2962. https://doi.org/10.3390/cancers12102962.
Article CAS PubMed Google Scholar
Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, et al. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood. 2011;118(13):3715–20. https://doi.org/10.1182/blood-2011-06-365049.
Article CAS PubMed PubMed Central Google Scholar
Parta M, Shah NN, Baird K, et al. Allogeneic hematopoietic stem cell transplantation for GATA2 deficiency using a Busulfan-based regimen. Biol Blood Marrow Transplant. 2018;24(6):1250–9. https://doi.org/10.1016/j.bbmt.2018.01.030.
Article CAS PubMed PubMed Central Google Scholar
Bortnick R, Wlodarski M, de Haas V, et al. Hematopoietic stem cell transplantation in children and adolescents with GATA2-related myelodysplastic syndrome. Bone Marrow Transplant. 2021;56(11):2732–41. https://doi.org/10.1038/s41409-021-01374-y.
Article CAS PubMed PubMed Central Google Scholar
Saettini F, Mantovani P, De Lorenzo P, et al. Severe and recurrent infections identify severe congenital neutropenia and primary immunodeficiencies in pediatric isolated neutropenia. Clin Immunol. 2021;223:108643. https://doi.org/10.1016/j.clim.2020.108643.
Article CAS PubMed Google Scholar
Saettini F, Bonanomi S, Orlandi S, et al. Isolated leukopenia in children and adolescents referred to a Pediatric Hematology Clinic. Scopus. 2023;12(1):e120108. https://doi.org/10.7363/120108.
Guerra F, L’Imperio V, Bonanomi S, et al. Pediatric immune myelofibrosis (PedIMF) as a novel and distinct clinical pathological entity. Front Pediatr. 2022;10:1031687. https://doi.org/10.3389/fped.2022.1031687.
Article PubMed PubMed Central Google Scholar
Saettini F, Coliva T, Vendemini F, et al. When to suspect GATA2 deficiency in pediatric patients: from complete blood count to diagnosis. Pediatr Hematol Oncol. 2021;38(5):510–4. https://doi.org/10.1080/08880018.2020.1863536.
Article CAS PubMed Google Scholar
Belcher R, Virgin F, Duis J, Wootten C. Genetic and Non-genetic Workup for Pediatric Congenital Hearing Loss. Front Pediatr. 2021;9:536730. https://doi.org/10.3389/fped.2021.536730.
Article PubMed PubMed Central Google Scholar
Rütsche CV, Haralambieva E, Lysenko V, et al. A patient with a germline GATA2 mutation and primary myelofibrosis. Blood Adv. 2021;5(3):791–5. https://doi.org/10.1182/bloodadvances.2020003401.
Article CAS PubMed PubMed Central Google Scholar
de Parades V, Bouchard D, Janier M, Berger A. Pilonidal sinus disease. J Visc Surg. 2013;150(4):237–47. https://doi.org/10.1016/j.jviscsurg.2013.05.006.
Dickinson RE, Milne P, Jardine L, et al. The evolution of cellular deficiency in GATA2 mutation. Blood. 2014;123(6):863–74. https://doi.org/10.1182/blood-2013-07-517151.
Article CAS PubMed PubMed Central Google Scholar
Saettini F, Fazio G, Moratto D, et al. Case report: Hypomorphic function and somatic reversion in dock8 deficiency in one patient with two novel variants and sclerosing cholangitis. Front Immunol. 2021;12:673487. https://doi.org/10.3389/fimmu.2021.673487.
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