Figure 1
Figure 1. Mononuclear cell profiles of patients with Emberger syndrome, monoMAC, and familial MDS associated with GATA2 mutation. Examples of mononuclear profiling in familial MDS (#18; T354M), monoMAC (#25; del340-381), and Emberger syndrome (#30; A341fs) showing that a DCML-deficiency phenotype may be associated with diverse clinical manifestations and different GATA2 mutations. Populations: (1) CD14+ monocyte; (2) CD16+ monocyte; (3) pDC; (4) CD34+ progenitors; (5) CD141+ mDC; (6) CD1c+ mDC; (7) B cells; and (8) NK cells. Note expansion of CD34+ progenitors.

Mononuclear cell profiles of patients with Emberger syndrome, monoMAC, and familial MDS associated with GATA2 mutation. Examples of mononuclear profiling in familial MDS (#18; T354M), monoMAC (#25; del340-381), and Emberger syndrome (#30; A341fs) showing that a DCML-deficiency phenotype may be associated with diverse clinical manifestations and different GATA2 mutations. Populations: (1) CD14+ monocyte; (2) CD16+ monocyte; (3) pDC; (4) CD34+ progenitors; (5) CD141+ mDC; (6) CD1c+ mDC; (7) B cells; and (8) NK cells. Note expansion of CD34+ progenitors.

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