Table 1 Principal clinical features of GATA2 deficiency described previously and presented in this case report
Featuresa | Detailsa | Approximate frequencya | Case report presentation |
|---|---|---|---|
MDS/AML | Early-onset, familial history, bone marrow fibrosis, aggressive disease, associated with secondary mutations | 30–50% at presentation, 30 years- old median onset, 90% lifetime risk | Yes |
Warts, severe Viral infection | HPV all serotypes, herpesviruses | 60–70% at presentation, 10–20% disseminated CMV, VZV and EBV | No |
Pulmonary alveolar proteinosis or decreased lung function | PAP (GM-CSF antibody negative), pulmonary arterial hypertension, loss of volume or diffusion, pneumonia | 18% proven PAP 10% PAH 50% abnormal PFT 14% pneumonia | Yes (he had only pulmonary infiltrate) |
Mycobacterial or fungal infection | NTM (MAC and others) aspergillosis, histoplasmosis | 20–50% NTM 16% aspergillosis, 9% histoplasmosis | Yes |
Recurrent upper respiratory tract infection | Otitis, sinusitis | 10–20% | Yes |
Autoimmune manifestations | Panniculitis, arthritis, lupus-like, hypothyroidism, hepatitis/PBC | 30% panniculitis, arthritis in up to 50% overall | Yes |
Solid malignancy | HPV and EBV- mesenchymal related, breast, prostate and kidney cancer, metastatic melanoma | 20–35% intra-epithelial neoplasia, 22% of women with > 35 years breast cancer, other skin cancer 10% | No |
Lymphedema | Childhood or adolescence | 11–20% | No |
Thrombosis | DVT, PE, Catheter-related | 25% risk overall | Yes |
Deafness | Neurosensorial | 20% abnormal audiograms | No |