GATA2 Deficiency

**Semantic type:** Disease or Syndrome

**Definition:** A condition of decreased or absent presence or activity of endothelial transcription factor GATA-2 protein. Deficiency of this protein is associated with immunodeficiency 21 and autosomal dominant and sporadic monocytopenia and mycobacterial infection syndrome (MonoMAC).

**Synonyms:** - GATA2 deficiency/MonoMac syndrome - Immunodeficiency 21 - MonoMAC Syndrome - Monocytopenia and Mycobacterial Infection Syndrome