GATA2 Deficiency
- Inheritance: Autosomal dominant
- Gene: GATA2
- Protein: GATA2
- Test: GATA2 Gene Sequencing
Key Clinical and Laboratory Features
- Common clinical features: Severe viral infections (HPV, HSV, EBV, CMV, VZV), invasive mycobacterial infections, malignancies (MDS, AML, CMML), lymphedema (Emberger syndrome), pulmonary alveolar proteinosis
- Other clinical features: Sensorineural hearing loss, hypothyroidism
- Physical exam: Papillomas (HPV), lymphedema in a subset of patients, pulmonary findings
- Common laboratory features: Monocytopenia, B-cell lymphopenia, NK cell deficiency, CD4+ T-cell lymphopenia – all are somewhat variable. Immunoglobulin levels and specific antibody responses may be low. Bone marrow biopsy will show signs of myelodysplasia.