GATA2 Deficiency

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.

	TEST	COMMENTS
GENE	GATA2 Gene Sequencing	The gold standard for confirming a diagnosis of GATA2 deficiency in a patient with suggestive symptoms.
PROTEIN AND FUNCTION	N/A	There are currently no available clinical tests to evaluate GATA2 protein expression or function.
OTHER		Complete blood count with differential: Monocytopenia in some patients. Lymphocyte subset analysis: B-cell lymphopenia and NK cell deficiency in some patients. Quantitative immunoglobulin levels: IgG and IgA may be low. Specific antibody titers: May be normal or low. Bone marrow biopsy: Signs of myelodysplasia.