Supplementary Material for: Disseminated Mycosis by <b><i>Arthrocladium</i></b> <b><i>fulminans</i></b> Jeopardizing a Patient with GATA2 Deficiency
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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 <i>Arthrocladium fulminans</i> following an infection with <i>Mycobacterium sherrisii</i>. This case illustrates that in patients with severe uncommon infections, immunodeficiency syndromes must be ruled out.
GATA2缺乏症(GATA2 deficiency)以单核细胞减少症、树突状细胞(dendritic cells)缺乏,以及累及B细胞与NK细胞的程度不一的淋巴细胞减少症为特征,可升高分枝杆菌、病毒及真菌感染的风险。本文报道1例携带杂合内含子区GATA2突变的患者,其在感染雪氏分枝杆菌(*Mycobacterium sherrisii*)后,因黑酵母样真菌爆孢节囊霉(*Arthrocladium fulminans*)引发致死性播散性真菌病。该病例表明,对于罹患重症罕见感染的患者,需排除免疫缺陷综合征。




