Late diagnosis of X-linked hyper-IgM syndrome presenting as
community-acquired pseudomonas aeruginosa pneumonia-related septic shock
Abstract
Pseudomonas aeruginosa (P. aeruginosa) is a gram-negative aerobic
bacterium, which is rarely seen in community-acquired infection.
Attention should be paid to its high mortality and invasive progress.
X-linked hyper-IgM syndrome (XHIGM; HIGM1; OMIM:308230) is one type of
primary immunodeficiency disease (PIDs), 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 a
delayed diagnosis of X-linked hyper IgM syndrome was made by genome
sequencing. Fatal community-acquired P. aeruginosa infections in
children, including previously healthy children, should be considered to
search for underlying PIDs by exome/genome sequencing.