Table 1 Disease spectrum of individuals carrying recurrent GATA2 mutations

From: Differential effects on gene transcription and hematopoietic differentiation correlate with GATA2 mutant disease phenotypes

Mutation (n =98)

Disease

 

Myeloid malignancies (MDS/AML/aCML/CMML)

ID with myeloid malignancies

ID without myeloid malignancies

ES (lymphedema+MDS)

No symptoms

Total

gT354M (n =64)

39 (64%)

8 (13%)

4 (7%)

0

10 (16%)

61 a

gR396Q (n=19)

6 (33%)

10 (55%)

1 (6%)

1 (6%)

0

18 a

gR398W (n=15)

2 (13%)

10 (67%)

2 (13%)

0

1 (7%)

15

Sub-total

47

28

7

1

11

94

  1. Abbreviations: AML, acute myeloid leukemia; aCML, atypical chronic myeloid leukemia; CMML, chronic myelomonocytic leukemia; ES, Emberger syndrome; ID, immunodeficiency; MDS, myelodysplastic syndrome.
  2. aFour GATA2 patients (three gT354M and one gR396Q) for whom age of death/age at diagnosis was unknown were excluded from analysis in Figure 1 (see Supplementary Table 1). Predominant phenotype (bold).
Back to article page