BACKGROUND Hemophagocytic lymphohistiocytosis (HLH) is a rare potentially fatal illness characterized by impaired natural killer and cytotoxic T cell function. Chronic granulomatous disease (CGD) is an inherited immune deficiency caused by a defect in the nicotinamide adenine dinucleotide phosphate (NADPH) oxidase complex. CGD patients display an increased susceptibility to infection with bacteria and fungi. Repeated infections lead to an increased risk for developing HLH. The case of CGD with repeated Salmonella septicemia complicated with HLH is very rare, and the CGD mutation identified has not been reported. CASE PRESENTATION A 3-year-old boy was admitted to our hospital for fever, hepatosplenomegaly and pancytopenia. According to the clinical manifestations and laboratory results, hemophagocytic lymphohistiocytosis (HLH) was diagnosed. Blood and bone marrow culture confirmed septicemia due to Salmonella Typhimurium. On the basis of antiinfection treatment, methylprednisolone was used to control HLH. After treatment, the clinical symptoms and laboratory results improved. Gene analysis showed a novel hemizygous CYBB gene mutation: c.302A > G (p.H101P). Combined with a past history of recurrent infection, the child was diagnosed with HLH secondary to CGD triggered by septicemia. CONCLUSIONS In case of a known (or highly suspected) CGD with a documented infection, clinical or biological features of HLH should encourage the physician to make possible to confirm or not the HLH. Therefore, to initiate the adequate treatment in association with anti-infective therapy.

中文翻译：

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慢性肉芽肿病患儿败血病引发的细胞因子风暴导致的吞噬性淋巴细胞组织细胞增多症：病例报告和文献复习。

背景技术吞噬性淋巴细胞组织细胞增生症（HLH）是一种罕见的潜在致命疾病，其特征在于自然杀伤力和细胞毒性T细胞功能受损。慢性肉芽肿性疾病（CGD）是由烟酰胺腺嘌呤二核苷酸磷酸（NADPH）氧化酶复合物的缺陷引起的遗传性免疫缺陷。CGD患者对细菌和真菌感染的敏感性增加。反复感染会导致患HLH的风险增加。反复沙门氏菌败血症并伴有HLH的CGD病例非常少见，尚未报道已鉴定出CGD突变。病例介绍一个3岁男孩因发烧，肝脾肿大和全血细胞减少症而入院。根据临床表现和实验室检查结果，诊断为噬血细胞淋巴组织细胞增生症（HLH）。血液和骨髓培养证实了鼠伤寒沙门氏菌引起的败血病。在抗感染治疗的基础上，使用甲基泼尼松龙控制HLH。治疗后，临床症状和实验室检查结果有所改善。基因分析显示一种新的半合子CYBB基因突变：c.302A> G（p.H101P）。结合过去的反复感染史，该儿童被诊断为败血症引发的继发于CGD的HLH。结论如果已知（或高度怀疑）CGD感染已被证明，HLH的临床或生物学特征应鼓励医师确认或不确认HLH。因此，开始与抗感染治疗相关的适当治疗。甲基泼尼松龙用于控制HLH。治疗后，临床症状和实验室检查结果有所改善。基因分析显示一种新的半合子CYBB基因突变：c.302A> G（p.H101P）。结合过去的反复感染史，该儿童被诊断为败血症引发的继发于CGD的HLH。结论如果已知（或高度怀疑）CGD感染已被证明，HLH的临床或生物学特征应鼓励医师确认或不确认HLH。因此，开始与抗感染治疗相关的适当治疗。甲基泼尼松龙用于控制HLH。治疗后，临床症状和实验室检查结果有所改善。基因分析显示一种新的半合子CYBB基因突变：c.302A> G（p.H101P）。结合过去的反复感染史，该儿童被诊断为败血症引发的继发于CGD的HLH。结论如果已知（或高度怀疑）CGD感染已被证明，HLH的临床或生物学特征应鼓励医师确认或不确认HLH。因此，开始与抗感染治疗相关的适当治疗。结合过去的反复感染史，该儿童被诊断为败血症引发的继发于CGD的HLH。结论如果已知（或高度怀疑）CGD感染已被证明，HLH的临床或生物学特征应鼓励医师确认或不确认HLH。因此，开始与抗感染治疗相关的适当治疗。结合过去的反复感染史，该儿童被诊断为败血症引发的继发于CGD的HLH。结论如果已知（或高度怀疑）CGD感染已被证明，HLH的临床或生物学特征应鼓励医师确认或不确认HLH。因此，开始与抗感染治疗相关的适当治疗。