Page 45 - Haematologica August 2018

GATA2 deficiency French/Belgian cohort
one patient presented with deep-vein thrombosis and pul- maturely, 2 women suffered from miscarriages, and one monary embolism while receiving treatment for breast patient had hypothyroidism.
cancer and MDS, one patient presented with myocardial
infarction at the age of 40, and one patient died from aor- At diagnosis, the majority of GATA2 deficient patients tic dissection at the age of 33 years (Table 1). had abnormal blood parameters
Only 3 patients had pulmonary alveolar proteinosis and Sixty of the 74 symptomatic patients were free of hema- one patient in the cohort was deaf. Four patients had uro- tologic malignancy at diagnosis. A blood count was avail- genital abnormalities. Three patients had been born pre- able for 49 patients before hematologic evolution. The
AB
CD
EF
Figure 1. Onset of disease, hematologic and infectious complications. (A) Kaplan Meier curves are shown for the onset of disease in 74 symptomatic patients with a GATA2 mutation. (B) Occurrence of myelodysplastic leukemia (MDS) / acute leukemia (AL).(C-F) Rate in mycobacterial, human papillomavirus (HPV), bacterial and mycotic infections. Confidence intervals of 95% are shaded gray.
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