This case describes a four-month-old male who was admitted to the pediatric intensive care unit for acute respiratory failure in the setting of a co-infection requiring increased ventilatory support. Immunodeficiency workup demonstrated poor vaccination response and low immunoglobulin titers. mNGS via Karius® test was positive for (PJP), Parvovirus, and Bocavirus. The patient was successfully treated with trimethoprim-sulfamethoxazole and prednisone. Genetic workup via Invitae panel confirmed that the patient had X-linked Hyper-IgM Syndrome. Use of mNGS can help with early identification of pathogens that conventional testing does not detect, even in patients not already identified as immunocompromised.

中文翻译：

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使用宏基因组新一代测序技术鉴定诊断为 X 连锁高 IgM 综合征的既往健康婴儿的肺孢子菌肺炎

该病例描述了一名四个月大的男性，因合并感染的急性呼吸衰竭而被送入儿科重症监护室，需要增加通气支持。免疫缺陷检查显示疫苗接种反应较差，免疫球蛋白滴度较低。通过 Karius® 进行的 mNGS 测试显示 (PJP)、细小病毒和博卡病毒呈阳性。该患者经甲氧苄氨嘧啶-磺胺甲恶唑和泼尼松成功治疗。通过 Invitae 小组进行的基因检查证实，该患者患有 X 连锁高 IgM 综合征。使用 mNGS 可以帮助早期识别传统检测无法检测到的病原体，即使是尚未确定为免疫功能低下的患者也是如此。