Pneumology and Respiratory Critical Care Medicine, Thoraxklinik at University of Heidelberg, Heidelberg, Germany.
Institute of Immunology, University Hospital Heidelberg, Heidelberg, Germany.
Respiration. 2019;97(5):472-475. doi: 10.1159/000493429. Epub 2019 Mar 29.
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.
GATA2 缺陷症的特征是单核细胞减少症、树突状细胞缺陷和程度不定的淋巴细胞减少症，影响 B 细胞和 NK 细胞，导致分枝杆菌、病毒和真菌感染的风险增加。在此，我们报告了一例携带 GATA2 基因内含子杂合突变的患者，该患者在感染嗜肺军团菌后继发黑酵母样真菌尖端赛多孢菌感染，导致致命性播散性真菌感染。该病例说明，对于严重且不常见的感染患者，必须排除免疫缺陷综合征。
