GATA2 deficiency is characterized by monocytopenia, deficiency of dendritic cells, and a variable degree of lymphocytopenia affecting B cells and NK cells, leading to an enhanced risk of mycobacterial, viral, and fungal infections. Here we present a patient with a heterozygous intronic GATA2 mutation who acquired a fatal disseminated mycosis due to the black yeast-like fungus Arthrocladium fulminans following an infection with Mycobacterium sherrisii. This case illustrates that in patients with severe uncommon infections, immunodeficiency syndromes must be ruled out.
- Egenlauf, B.
- Schuhmann, M.
- Giese, T.
- Junghanss, T.
- Stojkovic, M.
- Tintelnot, K.
- de Hoog, S.
- Greil, J.
- Richter, E.
- Vehresschild, M.
- Heussel, C. P.
- Herth, F. J. F.
- Kreuter, M.
Keywords
- Arthrocladium fulminans
- Gata2
- Immunodeficiency syndrome
- Melanized fungus
- MonoMAC
- Mycobacterium sherrisii
