Abstract
Interleukin-1 receptor-associated kinase 4 (IRAK-4) deficiency is a primary immunodeficiency of innate immunity. This is the case of a previous healthy toddler and his sibling, who both died of fulminant sepsis due to Pseudomonas aeruginosa. Subsequent genetic analysis demonstrated IRAK-4 deficiency with compound heterozygous splice mutations. Fulminant fatal P. aeruginosa sepsis may be the first manifestation of IRAK-4 deficiency.
Publication types
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Case Reports
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Research Support, N.I.H., Extramural
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Research Support, Non-U.S. Gov't
MeSH terms
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Bacteremia*
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Fatal Outcome
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Humans
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Immunologic Deficiency Syndromes*
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Infant
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Interleukin-1 Receptor-Associated Kinases
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Male
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Primary Immunodeficiency Diseases
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Pseudomonas Infections / diagnosis
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Pseudomonas Infections / genetics*
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Pseudomonas Infections / metabolism
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Pseudomonas Infections / microbiology*
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Pseudomonas aeruginosa*
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Siblings*
Substances
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Interleukin-1 Receptor-Associated Kinases