Table 1.
Summary of main clinical findings and GATA2 genetic variants in the ascertain patients.
| Patient | Age/Sex/Ethnicity | Infectious diagnosis | Site of infection | Neoplastic diagnosis | GATA2 variant | Type of variant | Follow-up |
|---|---|---|---|---|---|---|---|
| 1 | 75/M/W | M. kansasii | Blood, lymph nodes and lung | MDS/AML | NG_029334.1:g.12080G>A (rs2335052) | Likely benign | Dead |
| 2* | 50/M/W | M. kansasii | Blood, lung and synovial fluid | MDS |
NG_029334.1:g.16287C>T (rs387906631) |
Pathogenic | Dead |
| 3 | 19/M/W | PCM | lood, lymph nodes | - | G_029334.1:g.16201G>A (rs369850507) and NG_029334.1:g.16225C>T (rs11708606) | VUS and benign | Dead |
| 4 | 55/F/N-w | M. fortuitum | Lung | Melanoma1 |
NG_029334.1:g.12080G>A (rs2335052) And NG_029334.1:g.16225C>T (rs11708606) |
Likely benign and benign | Dead |
| 5 | 57/M/W | Histoplasmosis | Skin and adrenal gland | NHL | - | - | Alive |
| 6 | 52/F/N-w | Sporotrichosis | Skin | - | - | - | Alive |
| 7 | 37/M/N-w | Histoplasmosis | Skin and lung | - | NG_029334.1:g.16225C>T (rs11708606) | Benign | Alive |
| 8 | 42/F/N-w | Histoplasmosis | Bone marrow, lymph node and lung | Ovary | - | - | Alive |
| 9 | 25/M/N-w | PCM | Lymph node | - | NG_029334.1:g.12080G>A (rs2335052) | Likely benign | Dead |
| 10 | 40/F/W | M. intracellulare | Lung | - | - | - | Dead |
| 11 | 74/F/N-w | Sporotrichosis | Skin | - | - | - | Alive |
| 12 | 58/M/W | Histoplasmosis and Candidosis | Lung, skin and larynx | - | NG_029334.1:g.16225C>T (rs11708606) | Benign | Alive |
| 13 | 49/M/N-w | Sporotrichosis | Skin and bones | MDS and Melanoma2 | - | - | Alive |
| 14 | 36/F/N-w | Sporotrichosis | Skin and bones | - | NG_029334.1:g.16225C>T (rs11708606) | Benign | Alive |
| 15 | 55/M/W | Histoplasmosis | Lung and skin | - | - | - | Alive |
| 16 | 58/M/W | Histoplasmosis | Lung | - | - | - | Alive |
| 17 | 59/M/W | Aspergillosis and M. abscessus | Lung and pleura | - | NG_029334.1:g.16225C>T (rs11708606) | Benign | Alive |
| 18 | 24/M/W | Histoplasmosis | Lung | - | - | - | Alive |
| 19 | 29/M/N-w | PCM | Lung and lymph nodes | - | - | - | Alive |
| 20 | 30/F/W | Histoplasmosis | Lung and skin | - | - | - | Alive |
| 21 | 30/M/W | Histoplasmosis | Lung | - | NG_029334.1:g.12080G>A (rs2335052) | Likely benign | Alive |
| 22 | 39/F/W | Histoplasmosis | Brain | - | - | - | Alive |
M: Male; F: Female; W: White; N-w: Non-white; FH: Familial history; PCM: Paracoccidioidomycosis; NTM: Nontuberculous mycobacteria; MDS: Myelodysplastic syndrome; AML: Acute myeloid leukemia; NHL: Non-Hodgkin Lymphoma of skin; VUS: Variant of uncertain significance.
MAF: Minor allele frequency in the population;
⁎
Case previously reported9.
1
Intestinal Melanoma.
2
Palmar Melanoma.