In addition to its hematologic manifestations, the spectrum of GATA2-related disease encompasses, among others, immunodeficiency with monocytopenia, B- and NK-cell lymphopenia, pulmonary disease, typically in the form of pulmonary alveolar proteinosis (PAP), as well as syndromic features like congenital deafness and lymphedema (5). Here, GATA2 is linked to immunodeficiency disease.