Page 47 - Haematologica August 2018

GATA2 deficiency French/Belgian cohort
favorably with antibiotics, recurrences were frequent. Nine patients had bacterial soft-tissue infections, and 5 had ENT infections. Twelve patients had a non-tubercu- lous mycobacterial infection (Figures 1C and 3) (Mycobacterium avium, kansasii, chelonae, genavense), and 4 patients developed tuberculosis. These mycobacterial infections were concomitant with MDS in 7 cases. The risk of acquiring a mycobacterial infection increased withage:9%attheageof20yearsto42%attheageof 40 years.
Severe viral infections led to death in 4 patients: H1N1 influenza five years after AML treatment (Figure 3), Epstein-Barr virus (EBV) lymphoproliferative disease after HSCT, HPV-related metastatic carcinoma and a progres- sive multifocal leukoencephalopathy caused by the JC virus which was the first manifestation of the disease. Cutaneous or genital recurrent HPV-induced warts were often the first reported symptom (32 cases, 40%), with 20- year and 40-year rates of 25% and 50%, respectively
(Figures 1 and 3). A high resistance to local treatment and frequent recurrences were common. Two patients devel- oped a neoplasia.
Eighteen fungal infections were observed in 16 patients (11 cases of aspergillosis, 5 of candidosis, and 2 of mucormy- cosis). Eight of these 18 infections were diagnosed during chemotherapy (n=5) or HSCT (n=3) (Figure 1F).
Several infectious complications appeared post HSCT (3 fungal, 1 viral and 2 bacterial infections related to HSV, 2 patients with EBV prior to the HSCT had recurrence of this virus after HSCT, which evolved to lymphoprolifera- tive disease in 1 patient) (Online Supplementary Table S1).
The course of infection was complicated by hemo- phagocytic syndrome in 6 patients (2 mycobacterial, 1 fungal and 3 viral infections).
A poor survival rate was observed in GATA2-deficient patients despite aggressive treatments
In our cohort, 27 patients (34%) died at a median age of
Figure 3. Clinical, radiographic, and cyto- logical features of GATA2 syndrome. (A) Cutaneous warts on the hands of a woman with myelodysplastic syndromes (MDS). (B) Hand rheumatism (C) Bilateral lymphoedema post-hematopoietic stem cell transplantation. (D) Acute respiratory distress syndrome in a H1N1 infection. (E) Osteomyelitis at presentation. (F) Progressive multifocal leukoen- cephalopathy in a 43-year old man. (G) Pulmonary alveolar proteinosis in a woman with MDS and warts. (H) Disseminated mycobacteriosis. (I and J) Bone marrow smears of pedigree 46. (I) Dysgranulopoiesis and blasts in a woman with MDS evolving to acute myeloid leukemia.2 (J) Dyserythropoiesis and dysgranulopoiesis in her son with MDS. (K) Macrophage activation second- ary to flu infection.
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