Late diagnosis of X-linked hyper-IgM syndrome presenting as community-acquired pseudomonas aeruginosa pneumonia-related septic shock
Published: 17 March 2023| Version 1 | DOI: 10.17632/yw3pdfyjsn.1
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.