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，简称P. aeruginosa）在社区获得性感染中罕见，但其高致死率和侵袭性进展应引起重视。X连锁高IgM综合征（XHIGM；HIGM1；OMIM:308230）是一种先天性免疫缺陷（IEIs），其特征为血清IgG、IgA和IgE水平显著降低，而血清IgM水平正常或升高。本文报道了一名患者，其患有特别严重的社区获得性铜绿假单胞菌肺炎相关败血症休克，并通过基因组测序才确诊为XHIGM。对于包括之前健康的儿童在内的儿童社区获得性致命感染，应考虑通过外显子/基因组测序寻找潜在的IEIs。