Abstract: Objective　To investigate the clinical features and diagnosis and treatment of non-human immunodeficiency virus（HIV）-associated Talaromyces marneffei（T.marneffei）infections combined with hemophagocytic lymphohistiocytosis（HLH）in children.Methods　The demographic characteristics，clinical manifestations，physical signs and laboratory examinations of 11 non-HIV children diagnosed with T.marneffei infection combined with HLH in Guangzhou Women and Childrens Medical Center from January 2010 to December 2020 were retrospectively analyzed，and the factors affecting the prognosis were preliminarily investigated.Results　Among the 11 children，ther were 7 males and 4 females，aged from 3 months to 3 years（median：one-year and ten-months old）.The most common clinical manifestations and signs were fever（11/11，100.00%），hepatosplenomegaly（11/11，100.00%）and cough（9/11，81.82%）.Other severe complications included septic shock（10/11，90.91%），acute respiratory distress syndrome（ARDS）（8/11，72.73%）multiple organ dysfunction syndrome（MODS）（8/11，72.73%），et al.All patients had decreased blood cells，increased C-reactive protein（CRP），and increased aspartate aminotransferase（AST）.The common abnormalities of peripheral immune profiles were decreased NK cell count（7/10，70.00%）and decreased serum IgG（4/11，36.36%）.Genetic testing was performed in six children，two cases were diagnosed as primary immunodeficiency disease（PIDs），one case was found to have COPA gene mutation，another one was found to have multiple locus gene mutation，and two cases were not found to have disease-related gene mutation.All children were confirmed by culture and/or histopathology to be with T.marneffei infection.Ten of them were treated with antifungal therapy，and sequential treatment with amphotericin B combined with itraconazole was the most commonly used.Eight cases were given pediatric advanced life support，and five cases were treated with HLH-2004.Finally，eight children died（8/11，72.73%）.Conclusion　The clinical manifestations of T.marneffei infection combined with HLH in non-HIV children are not specific，with more severe condition and higher mortality，and it is easy to be misdiagnosed or missed.Blood culture and bone marrow culture are carried out to detect pathogens for early identification，and early antifungal therapy and chemotherapy might improve the prognosis of children.

Key words: Talaromyces marneffei, hemophagocytic lymphohistiocytosis, child, diagnosis and treatment

摘要： 目的　探讨儿童非人类免疫缺陷病毒相关马尔尼菲篮状菌感染并噬血细胞综合征的临床特征及诊治要点。方法　回顾性分析2010年1月至2020年12月广州市妇女儿童医疗中心11例非人类免疫缺陷病毒相关马尔尼菲篮状菌感染并噬血细胞综合征患儿的人口学特征、临床表现、体征、实验室检查等资料，初步探讨影响其预后的因素。结果　11例患儿中，男7例，女4例，年龄3月龄至3岁（中位年龄1岁10月龄）。最常见的临床表现及体征依次为发热（11/11，100.00%）、肝脾肿大（11/11，100.00%）和咳嗽（9/11，81.82%）。其他严重并发症包括脓毒症休克（10/11，90.91%）、急性呼吸窘迫综合征（8/11，72.73%）、多器官功能障碍综合征（8/11，72.73%）等。所有患儿均有血细胞下降，C反应蛋白升高，天冬氨酸转移酶升高。常见的外周血免疫功能异常表现为NK细胞计数下降（7/10，70.00%），血清IgG下降（4/11，36.36%）。6例患儿行基因检测，2例患儿确诊为原发性免疫缺陷病，1例发现COPA基因突变，1例发现多个位点基因突变，2例未发现疾病相关基因突变。所有患儿通过血、骨髓等培养和（或）组织病理学阳性确诊为马尔尼菲篮状菌感染。10例患儿给予抗真菌治疗，以两性霉素B联合伊曲康唑序贯治疗最为常用。8例患儿给予高级生命支持，5例患儿给予HLH2004方案化疗，最终8例患儿死亡（8/11，72.73%）。结论　马尔尼菲篮状菌感染并噬血细胞综合征在非人类免疫缺陷病毒感染儿童临床表现无特异性，易误诊漏诊，且病情严重，病死率高。早期识别并行血、骨髓培养及组织病理活检积极寻找病原、给予抗病原和化疗治疗可能改善预后。

关键词: 马尔尼菲篮状菌, 噬血细胞综合征, 儿童, 诊疗