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.

Testing Approach

  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.
  • 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.