Lemierre's syndrome and genetic polymorphisms: a case report

Autor: Linval Philippe, Romaszko Jean-Pierre, Gourdon Florence, Lesens Olivier, Cayot-Constantin Sophie, Guerin Renaud, Mira Jean-Paul, Constantin Jean-Michel, Laurichesse Henri, Bazin Jean-Etienne
Jazyk: angličtina
Rok vydání: 2006
Předmět:
Zdroj: BMC Infectious Diseases, Vol 6, Iss 1, p 115 (2006)
Druh dokumentu: article
ISSN: 1471-2334
DOI: 10.1186/1471-2334-6-115
Popis: Abstract Background Lemierre's syndrome presents a classic clinical picture, the pathophysiology of which remains obscure. Attempts have been made to trace genetic predispositions that modify the host detection of pathogen or the resultant systemic reaction. Case presentation A 17-year old female, with no previous medical history, was admitted to the intensive care unit for septic shock, acute respiratory distress syndrome and Lemierre's syndrome. Her DNA was assayed for single nucleotide polymorphisms previously incriminated in the detection of the pathogen, the inflammatory response and the coagulation cascade. We observed functional variations in her Toll like 5 receptor (TLR 5) gene and two coagulation variations (Tissue Factor (TF) 603 and Plasminogen-Activator-Inhibitor-1 (PAI-1) 4G-4G homozygosity) associated with thrombotic events. Conclusion The innate immune response and the prothrombogenic mutations could explain, at least in part, the symptoms of Lemierre's syndrome. Genomic study of several patients with Lemierre's syndrome may reveal its pathophysiology.
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