A unique presentation of gata2 deficiency, emberger syndrome

GATA2 deficiency is a genetic defect resulting in a group of disorders, including Emberger syndrome. It presents in childhood with lymphedema, sensorineural hearing loss, lymphocyte deficiency, pulmonary alveolar proteinosis, and one or more dysplasias, commonly myelodysplastic syndrome or acute myeloid leukemia.
Source: Annals of Allergy, Asthma and Immunology - Category: Allergy & Immunology Authors: Tags: M235 Source Type: research