Background

Chronic granulomatous disease (CGD) presents with a myriad of clinical manifestations pertaining to both immunodeficiency and hyperinflammation. Although Candida infection is a signature organism for patients with CGD, C. lusitaniae pneumonia in CGD has rarely been reported. C. lusitaniae is a ubiquitous ascomycete predominantly infecting immunocompromised hosts and has the potential to rapidly develop multi-drug resistance during therapy. Additionally, C. lusitaniae is recognized for its variable resistance against amphotericin B. To date, C. lusitaniae infections in patients with CGD have not been reviewed in detail. False-positive HIV serology, resulting from polyclonal hypergammaglobulinemia, has been reported in association with several infections, auto-immune diseases, and malignancies. Although CGD is often associated with hypergammaglobulinemia, a false-positive HIV serology in CGD has not been reported previously.

Procedure

We report a combination of unique findings in a child with CGD – a false-positive HIV serology, Candida lusitaniae pneumonia, and a novel CYBB mutation. We also provide a detailed review of C. lusitaniae infections in patients with CGD.

Results

In patients with CGD, C. lusitaniae has been reported to cause lymphadenitis (cervical, abdominal), fungemia, meningoencephalitis, or abscesses in the liver and spleen. Many CGD patients with C. lusitaniae infection have associated inflammatory complications of the gut (inflammatory bowel disease, colitis). Additionally, almost all C. lusitaniae infections in CGD have been reported in young infants or in patients receiving long-term immunosuppressive therapy. This reflects that further immunocompromise (in addition to the underlying immune deficiency in CGD) may specifically predispose to C. lusitaniae infection (unlike other candidal infections). Most of the CGD patients with documented C. lusitaniae infection have X-linked form of the disease which generally has been postulated to have a more severe clinical phenotype than the autosomal recessive forms of the disease.

Conclusions

HIV serology may be positive in patients with CGD and other inborn errors of immunity as a result of hypergammaglobulinemia. C. lusitaniae, which may have peculiar and evolving antimicrobial sensitivity patterns, needs to be considered in patients with CGD and pneumonia. Lastly, to reiterate, CGD should to be considered in patients with proven C. lusitaniae infection.

中文翻译：

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假阳性 HIV 血清学、肺炎念珠菌和 CYBB 基因的新突变

背景

慢性肉芽肿病 (CGD) 呈现出与免疫缺陷和过度炎症有关的无数临床表现。尽管念珠菌感染是 CGD 患者的标志性微生物，但 CGD 中的C. lusitaniae肺炎很少见报道。C. lusitaniae是一种普遍存在的子囊菌，主要感染免疫功能低下的宿主，并有可能在治疗过程中迅速产生多药耐药性。此外，C. lusitaniae因其对两性霉素 B 的可变耐药性而受到认可。迄今为止，C. lusitaniaeCGD 患者的感染尚未详细审查。据报道，由多克隆高丙种球蛋白血症引起的假阳性 HIV 血清学与几种感染、自身免疫性疾病和恶性肿瘤有关。尽管 CGD 通常与高丙种球蛋白血症有关，但以前没有报道 CGD 中的假阳性 HIV 血清学。

程序

我们报告了一名患有 CGD 的儿童的独特发现——HIV 血清学假阳性、卢西塔尼亚念珠菌肺炎和新的CYBB突变。我们还详细回顾了 CGD 患者的C. lusitaniae感染。

结果

据报道，在患有 CGD 的患者中，C. lusitaniae会导致淋巴结炎（颈部、腹部）、真菌血症、脑膜脑炎或肝脏和脾脏中的脓肿。许多患有C. lusitaniae感染的CGD 患者伴有肠道炎症并发症（炎症性肠病、结肠炎）。此外，几乎所有C. lusitaniae在 CGD 中的感染都发生在小婴儿或接受长期免疫抑制治疗的患者中。这反映了进一步的免疫妥协（除了 CGD 中潜在的免疫缺陷外）可能特别易患C. lusitaniae感染（与其他念珠菌感染不同）。大多数有记录的C. lusitaniae的 CGD 患者 感染具有 X 连锁形式的疾病，通常假定其具有比该疾病的常染色体隐性形式更严重的临床表型。

结论

由于高丙种球蛋白血症导致的 CGD 和其他先天性免疫缺陷患者的 HIV 血清学可能呈阳性。C. lusitaniae可能具有特殊且不断演变的抗菌药物敏感性模式，需要在 CGD 和肺炎患者中考虑。最后，重申一下，CGD 应考虑用于已证实感染C. lusitaniae的患者。