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Hoffmann, R. A wiki for the life sciences where authorship matters. Nature Genetics (2008)
 

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Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation.

Septicemia is a life-threatening condition that may lead to sepsis and even septic shock. This cascade is usually accompanied by a pronounced inflammatory response, leading to high body temperature and elevated levels of laboratory markers of inflammation. However, this response can be significantly diminished in children with inherited disorders of nuclear factor (NF)-kappa B-mediated immunity. Three disease-causing genes involved in NF-kappa B activation have been identified: NEMO, IKBA, and IRAK4. Patients with anhidrotic ectodermal dysplasia and immunodeficiency, which is caused by mutations in NEMO and IKBA, have sparse hair, dry skin, and conical teeth and are at increased risk of severe infections caused by pyogenic bacteria and atypical mycobacteria. Patients with interleukin-1 receptor-associated kinase-4 deficiency are at increased risk of invasive disease due to pyogenic bacteria. An underlying defect in NF- kappa B activation should be suspected in children with bacterial septicemia accompanied by mild signs of inflammation.[1]

References

  1. Septicemia without sepsis: inherited disorders of nuclear factor-kappa B-mediated inflammation. von Bernuth, H., Puel, A., Ku, C.L., Yang, K., Bustamante, J., Chang, H.H., Picard, C., Casanova, J.L. Clin. Infect. Dis. (2005) [Pubmed]
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