| Literature DB >> 30928982 |
Benjamin Egenlauf1, Maren Schuhmann1, Thomas Giese2, Thomas Junghanss3, Marija Stojkovic3, Kathrin Tintelnot4, Sybren de Hoog5, Johann Greil6, Elvira Richter7, Maria Vehresschild8, Claus Peter Heussel9,10,11, Felix J F Herth1,11, Michael Kreuter12,13.
Abstract
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.Entities:
Keywords: Arthrocladium fulminans; GATA2; Immunodeficiency syndrome; Melanized fungus; MonoMAC; Mycobacterium sherrisii
Year: 2019 PMID： 30928982 DOI： 10.1159/000493429
Source DB: PubMed Journal: Respiration ISSN： 0025-7931 Impact factor: 3.580