MonoMAC and GATA2 deficiency: Overlapping clinical and pathological features with aplastic anemia and idiopathic CD4 + lymphocytopenia

Haematologica

Volumn 97, Issue 4, 2012, Pages 12-13

  Calvo, Katherine R ^a   Hickstein, Dennis D ^b   Holland, Steven M ^c  

^a NATIONAL INSTITUTES OF HEALTH   (United States)

^b NATIONAL CANCER INSTITUTE   (United States)

^c NATIONAL INSTITUTE OF ALLERGY AND INFECTIOUS DISEASES   (United States)

Author keywords

Aplastic anemia; Deficiency; Diagnosis; GATA2; ICL; MonoMAC

Indexed keywords

CD34 ANTIGEN; CD4 ANTIGEN; TRANSCRIPTION FACTOR GATA 2;

ACUTE GRANULOCYTIC LEUKEMIA; APLASTIC ANEMIA; ATYPICAL MYCOBACTERIOSIS; B LYMPHOCYTE; CHROMOSOME ANALYSIS; DENDRITIC CELL; GENE MUTATION; HUMAN; IMMUNE DEFICIENCY; LETTER; LYMPHEDEMA; LYMPHOCYTOPENIA; MONOCYTE; MONOCYTOPENIA; MYCOBACTERIUM INTRACELLULARE AVIUM; MYELODYSPLASTIC SYNDROME; NATURAL KILLER CELL;

EID: 84859464786     PISSN: 03906078     EISSN: 15928721     Source Type: Journal    
DOI: 10.3324/haematol.2012.063396     Document Type: Letter

References (12)

1. Vinh DC, Patel SY, Uzel G, Anderson VL, Freeman AF, Olivier KN, et al. Autosomal dominant and sporadic monocytopenia with susceptibility to mycobacteria, fungi, papillomaviruses, and myelodysplasia. Blood. 2010;115(8):1519-1529.
2. Calvo KR, Vinh DC, Maric I, Wang W, Noel P, Stetler-Stevenson M, et al. Myelodysplasia in autosomal dominant and sporadic monocytopenia immunodeficiency syndrome: diagnostic features and clinical implications. Haematologica. 2011;96(8):1221-1225.
3. Hsu AP, Sampaio EP, Khan J, Calvo KR, Lemieux JE, Patel SY, et al. Mutations in GATA2 are associated with the autosomal dominant and sporadic monocytopenia and mycobacterial infection (MonoMAC) syndrome. Blood. 2011;118(10):2653-2655.
4. Bigley V, Haniffa M, Doulatov S, Wang XN, Dickinson R, McGovern N, et al. The human syndrome of dendritic cell, monocyte, B and NK lymphoid deficiency. J Exp Med. 2011;208(2):227-234.
5. Dickinson RE, Griffin H, Bigley V, Reynard LN, Hussain R, Haniffa M, et al. Exome sequencing identifies GATA-2 mutation as the cause of dendritic cell, monocyte, B and NK lymphoid deficiency. Blood. 2011;118(10):2656-2658.
6. Hahn CN, Chong CE, Carmichael CL, Wilkins EJ, Brautigan PJ, Li XC, et al. Heritable GATA2 mutations associated with familial myelodysplastic syndrome and acute myeloid leukemia. Nat Genet. 2011;43(10):1012-1017.
7. Mansour S, Connell F, Steward C, Ostergaard P, Brice G, Smithson S, et al. Emberger syndrome-primary lymphedema with myelodysplasia: report of seven new cases. Am J Med Genet A. 2010;152A(9):2287-2296.
8. Ostergaard P, Simpson MA, Connell FC, Steward CG, Brice G, Woollard WJ, et al. Mutations in GATA2 cause primary lymphedema associated with a predisposition to acute myeloid leukemia (Emberger syndrome). Nat Genet. 2011;43(10):929-931.
9. Kazenwadel J, Secker GA, Liu YJ, Rosenfeld JA, Wildin RS, Cuellar-Rodriguez J, et al. 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. Blood. 2012;119(5):1283-1291.
10. Chu VH, Curry JL, Elghetany MT, Curry CV. MonoMAC versus Idiopathic CD4+ lymphocytopenia. Haematologica. 2012;97(4): e9-e11.
11. Rodrigues NP, Janzen V, Forkert R, Dombkowski DM, Boyd AS, Orkin SH, et al. Haploinsufficiency of GATA-2 perturbs adult hematopoietic stem-cell homeostasis. Blood. 2005;106(2):477-484.
12. Cuellar-Rodriguez J, Gea-Banacloche J, Freeman AF, Hsu AP, Zerbe CS, Calvo KR, et al. Successful allogeneic hematopoietic stem cell transplantation for GATA2 deficiency. Blood. 2011;118(13):3715-3720.