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Late diagnosis of X-linked hyper-IgM syndrome presenting as community-acquired pseudomonas aeruginosa pneumonia-related septic shock
  • +2
  • Lin Yang,
  • Lina Chen,
  • Liang Xie,
  • Ying Xiong,
  • Hanmin Liu
Lin Yang
Sichuan University West China Second University Hospital
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Lina Chen
Sichuan University West China Second University Hospital
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Liang Xie
Sichuan University West China Second University Hospital
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Ying Xiong
Sichuan University West China Second University Hospital

Corresponding Author:[email protected]

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Hanmin Liu
Sichuan University West China Second University Hospital
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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.