Page 51 - Haematologica August 2018

GATA2 deficiency French/Belgian cohort
Reference
1. HahnCN,ChongC-E,CarmichaelCL,etal. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012-1017.
2. VinhDC,PatelSY,UzelG,etal.Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010;115(8):1519-1529.
3. Calvo KR, Vinh DC, Maric I, et al. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica. 2011;96(8):1221-1225.
4. HsuAP,SampaioEP,KhanJ,etal.Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syn- drome. Blood. 2011;118(10):2653-2655.
5. Bigley V, Haniffa M, Doulatov S, et al. The human syndrome of dendritic cell, mono- cyte, B and NK lymphoid deficiency. J Exp Med. 2011;208(2):227-234.
6. Ostergaard P, Simpson MA, Connell FC, et al. Mutations in GATA2 cause primary lym- phedema associated with a predisposition to acute myeloid leukemia (Emberger syn- drome). Nat Genet. 2011;43(10):929-931.
7. Hsu AP, Johnson KD, Falcone EL, et al. GATA2 haploinsufficiency caused by muta- tions in a conserved intronic element leads
to MonoMAC syndrome. Blood. 2013;121(19):3830-3837, S1-7.
8. GanapathiKA,TownsleyDM,HsuAP,etal. GATA2 deficiency-associated bone marrow disorder differs from idiopathic aplastic ane- mia. Blood. 2015;125(1):56-70.
9. Griese M, Zarbock R, Costabel U, et al. GATA2 deficiency in children and adults with severe pulmonary alveolar proteinosis and hematologic disorders. BMC Pulm Med. 2015;1587.
10. Polat A, Dinulescu M, Fraitag S, et al. Skin manifestations among GATA2-deficient patients. Br J Dermatol. 2018;178(3):781- 785.
11. Pasquet M, Bellanné-Chantelot C, Tavitian S, et al. High frequency of GATA2 mutations in patients with mild chronic neutropenia evolving to MonoMac syndrome, myelodysplasia, and acute myeloid leukemia. Blood. 2013;121(5):822-829.
12. Wlodarski MW, Hirabayashi S, Pastor V, et al. Prevalence, clinical characteristics, and prognosis of GATA2-related myelodysplas- tic syndromes in children and adolescents. Blood. 2016;127(11):1387-1397; quiz 1518.
13. Spinner MA, Sanchez LA, Hsu AP, et al.
GATA2 deficiency: a protean disorder of hematopoiesis, lymphatics, and immunity. Blood. 2014;123(6):809-821.
14. Collin M, Dickinson R, Bigley V. Haematopoietic and immune defects associ- ated with GATA2 mutation. Br J Haematol. 2015;169(2):173-187.
15. Donadieu J, Beaupain B, Mahlaoui N, Bellanné-Chantelot C. Epidemiology of con- genital neutropenia. Hematol Oncol Clin North Am. 2013;27(1):1-17, vii.
16. Donadieu J, Leblanc T, Bader Meunier B, et al. Analysis of risk factors for myelodys- plasias, leukemias and death from infection among patients with congenital neutrope- nia. Experience of the French Severe Chronic Neutropenia Study Group. Haematologica. 2005;90(1):45-53.
17. Richards S, Aziz N, Bale S, et al. Standards and guidelines for the interpretation of sequence variants: a joint consensus recom- mendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med Off J Am Coll Med Genet. 2015;17 (5):405-424.
18. Plebani A, Ugazio AG, Avanzini MA, et al. Serum IgG subclass concentrations in healthy subjects at different age: age normal percentile charts. Eur J Pediatr. 1989;149(3): 164-167.
19. Niemeyer CM, Baumann I. Classification of childhood aplastic anemia and myelodys- plastic syndrome. Hematol Am Soc Hematol Educ Program. 2011;2011:84-89.
20. Vardiman JW, Thiele J, Arber DA, et al. The 2008 revision of the World Health Organization (WHO) classification of myeloid neoplasms and acute leukemia: rationale and important changes. Blood. 2009;114(5):937-951.
21. Greenberg PL, Tuechler H, Schanz J, et al. Revised international prognostic scoring sys- tem for myelodysplastic syndromes. Blood. 2012;120(12):2454-2465.
22. Arber DA, Orazi A, Hasserjian R, et al. The 2016 revision to the World Health Organization classification of myeloid neo- plasms and acute leukemia. Blood. 2016;127(20):2391-2405.
23. Koegel AK, Hofmann I, Moffitt K, Degar B, Duncan C, Tubman VN. Acute lymphoblas- tic leukemia in a patient with MonoMAC syndrome/GATA2 haploinsufficiency. Pediatr Blood Cancer. 2016;63(10):1844- 1847.
24. Tsai FY, Keller G, Kuo FC, et al. An early haematopoietic defect in mice lacking the transcription factor GATA-2. Nature. 1994;371(6494):221-226.
25. Rodrigues NP, Tipping AJ, Wang Z, Enver T. GATA-2 mediated regulation of normal hematopoietic stem/progenitor cell func-
tion, myelodysplasia and myeloid leukemia.
Int J Biochem Cell Biol. 2012;44(3):457-460. 26. Nandakumar SK, Johnson K, Throm SL, Pestina TI, Neale G, Persons DA. Low-level GATA2 overexpression promotes myeloid progenitor self-renewal and blocks lym- phoid differentiation in mice. Exp Hematol.
2015;43(7):565-577.e1-10.
27. Bödör C, Renneville A, Smith M, et al.
Germ-line GATA2 p.THR354MET mutation in familial myelodysplastic syndrome with acquired monosomy 7 and ASXL1 mutation demonstrating rapid onset and poor sur- vival. Haematologica. 2012;97(6):890-894.
28. West RR, Hsu AP, Holland SM, Cuellar- Rodriguez J, Hickstein DD. Acquired ASXL1 mutations are common in patients with inherited GATA2 mutations and correlate with myeloid transformation. Haematologica. 2014;99(2):276-281.
29. Wang X, Muramatsu H, Okuno Y, et al. GATA2 and secondary mutations in familial myelodysplastic syndromes and pediatric myeloid malignancies. Haematologica. 2015;100(10):e398-401.
30. 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.
31. Chou J, Lutskiy M, Tsitsikov E, Notarangelo LD, Geha RS, Dioun A. Presence of hypogammaglobulinemia and abnormal antibody responses in GATA2 deficiency. J Allergy Clin Immunol. 2014;134(1):223-226.
32. Kreuter A, Hochdorfer B, Brockmeyer NH, et al. A human papillomavirus-associated dis- ease with disseminated warts, depressed cell- mediated immunity, primary lymphedema, and anogenital dysplasia: WILD syndrome. Arch Dermatol. 2008;144(3):366-372.
33. Ostrow RS, Manias D, Mitchell AJ, Stawowy L, Faras AJ. Epidermodysplasia verruciformis. A case associated with pri- mary lymphatic dysplasia, depressed cell- mediated immunity, and Bowen’s disease containing human papillomavirus 16 DNA. Arch Dermatol. 1987;123(11):1511-1516.
34. Dorn JM, Patnaik MS, Van Hee M, et al. WILD syndrome is GATA2 deficiency: A novel deletion in the GATA2 gene. J Allergy Clin Immunol Pract. 2017;5(4):1149- 1152.e1.
35. Mace EM, Hsu AP, Monaco-Shawver L, et al. Mutations in GATA2 cause human NK cell deficiency with specific loss of the CD56(bright) subset. Blood. 2013;121(14): 2669-2677.
36. Webb G, Chen Y-Y, Li K-K, et al. Single-gene association between GATA-2 and autoim- mune hepatitis: A novel genetic insight high- lighting immunologic pathways to disease. J Hepatol. 2016;64(5):1190-1193.
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