Late diagnosis of X-linked hyper-IgM syndrome presenting as community-acquired pseudomonas aeruginosa pneumonia-related septic shock

Pseudomonas aeruginosa (P. aeruginosa) is rarely seen in community-acquired infection, but attention should be paid for its high mortality and invasive progress. X-linked hyper-IgM syndrome (XHIGM; HIGM1; OMIM:308230) is one type of inborn errors of immunity (IEIs), characterized by markedly decreased serum IgG, IgA, and IgE levels and normal or elevated serum IgM levels. We report a patient who developed a particularly severe community-acquired P. aeruginosa pneumonia-related septic shock, and late diagnosis of XHIGM was made by genome sequencing. Fatal community-acquired infections in children, including previously healthy children, should be considered to search for underlying IEIs by exome/genome sequencing.铜绿假单胞菌（Pseudomonas aeruginosa）在社区获得性感染中较为罕见，但需警惕其高病死率与侵袭性进展特性。X连锁高IgM综合征（X-linked hyper-IgM syndrome，XHIGM; HIGM1; OMIM:308230）属于原发性免疫缺陷病（inborn errors of immunity，IEIs）的亚型之一，以血清IgG、IgA及IgE水平显著降低，血清IgM水平正常或升高为核心特征。本文报告1例罹患极重症社区获得性铜绿假单胞菌肺炎相关性感染性休克的患者，后经基因组测序确诊为晚发性XHIGM。针对儿童（包括既往健康儿童）的致死性社区获得性感染，应考虑通过外显子组/基因组测序排查潜在的原发性免疫缺陷病。