title: Homozygous 23-bp insertion of endothelial protein c receptor gene in a child with fatal sepsis.
abstract: Endothelial protein C receptor (EPCR) is primarily localized on the endothelial cells of large blood vessels and is very low or absent in the microvascular endothelium of most tissues. EPCR augments the thrombin/thrombomodulin-dependent activation of protein C by 5- to 20-fold. EPCR appears to be physiologically significant in the control of blood coagulation and inflammation and in the host response to gram-negative sepsis. Here, the authors report an 8-month-old boy, who had chronic liver disease due to undetermined cause. He had Staphylococcus aureus and Candida albicans sepsis and died due to gastrointestinal, lung, and peritoneal bleeding during follow-up. Serum soluble EPCR level of the patient was high (225 ng/mL) during sepsis. A homozygous 23-bp insertion of EPCR gene was demonstrated. This case indicates the importance the EPCR gene plaus in pediatric sepsis. Homozygous 23-bp insertion of the EPCR gene may be associated with a tendency to sepsis and poor outcome.
authors: Pediatric Intensive Care Unit, Ankara University School of Medicine, Ankara, Turkey.
authors: Tanil
authors: T
authors: Kendirli
authors: Ergin
authors: E
authors: Ciftçi
authors: Erdal
authors: E
authors: Ince
authors: Engin
authors: E
authors: Yurdakul
authors: Aydan
authors: A
authors: Kansu
authors: Nejat
authors: N
authors: Akar
mesh_terms: D015703:Antigens, CD / Q000235:genetics*; D016470:Bacteremia / Q000382:microbiology*; D002176:Candida albicans / Q000472:pathogenicity*; D000074283:Endothelial Protein C Receptor; D004730:Endothelium, Vascular; D017809:Fatal Outcome; D016469:Fungemia / Q000382:microbiology*; D006471:Gastrointestinal Hemorrhage / Q000235:genetics; D006720:Homozygote; D006801:Humans; D007223:Infant; D008297:Male; D016254:Mutagenesis, Insertional; D011956:Receptors, Cell Surface / Q000235:genetics*; D013211:Staphylococcus aureus / Q000472:pathogenicity*
chemical_list: D015703:Antigens, CD; D000074283:Endothelial Protein C Receptor; C478370:PROCR protein, human; D011956:Receptors, Cell Surface