FREE NEJM E-TOC    HOME   |   SUBSCRIBE   |   CURRENT ISSUE   |   PAST ISSUES   |   COLLECTIONS   |   Search Term  Advanced Search

Sign in | Get NEJM's E-Mail Table of Contents — Free | Subscribe

Previous Volume 310:559-562 March 1, 1984 Number 9 Next

	Add to Personal Archive Add to Citation Manager Notify a Friend E-mail When Cited PubMed Citation

Abstract

We studied a family in which two infants had died with massive venous thrombosis shortly after birth. Protein C antigen was undetectable by immunologic assays of plasma available from one infant. (Protein C is a potent naturally occurring anticoagulant that inactivates activated coagulation factors V and VIII). The parents, who were first cousins, both had partial protein C deficiency. Reduced protein C levels were also observed in 12 of 25 additional family members. None of the partially deficient family members (age range 4 to 70 years) had thrombotic episodes. Our data support the view that hereditary protein C deficiency is an autosomal disorder in which the homozygous state may be manifested by the virtual absence of plasma protein C and by fatal thrombosis in the neonatal period.

This article has been cited by other articles:

• Preston, R. J. S., Ajzner, E., Razzari, C., Karageorgi, S., Dua, S., Dahlback, B., Lane, D. A. (2006). Multifunctional Specificity of the Protein C/Activated Protein C Gla Domain. J. Biol. Chem. 281: 28850-28857 [Abstract] [Full Text]  
• Finigan, J. H., Dudek, S. M., Singleton, P. A., Chiang, E. T., Jacobson, J. R., Camp, S. M., Ye, S. Q., Garcia, J. G. N. (2005). Activated Protein C Mediates Novel Lung Endothelial Barrier Enhancement: ROLE OF SPHINGOSINE 1-PHOSPHATE RECEPTOR TRANSACTIVATION. J. Biol. Chem. 280: 17286-17293 [Abstract] [Full Text]  
• de Wouwer, M. V., Collen, D., Conway, E. M. (2004). Thrombomodulin-Protein C-EPCR System: Integrated to Regulate Coagulation and Inflammation. Arterioscler. Thromb. Vasc. Bio. 24: 1374-1383 [Abstract] [Full Text]  
• Deguchi, H., Yegneswaran, S., Griffin, J. H. (2004). Sphingolipids as Bioactive Regulators of Thrombin Generation. J. Biol. Chem. 279: 12036-12042 [Abstract] [Full Text]  
• McBane, R. D. II (2003). Genetically Determined Procoagulant States and Heparin Use. SEMIN CARDIOTHORAC VASC ANESTH 7: 427-442 [Abstract]  
• Sturn, D. H., Kaneider, N. C., Feistritzer, C., Djanani, A., Fukudome, K., Wiedermann, C. J. (2003). Expression and function of the endothelial protein C receptor in human neutrophils. Blood 102: 1499-1505 [Abstract] [Full Text]  
• Berg, D. T., Gerlitz, B., Shang, J., Smith, T., Santa, P., Richardson, M. A., Kurz, K. D., Grinnell, B. W., Mace, K., Jones, B. E. (2003). Engineering the proteolytic specificity of activated protein C improves its pharmacological properties. Proc. Natl. Acad. Sci. USA 100: 4423-4428 [Abstract] [Full Text]  
• Mann, K. G., Kalafatis, M. (2003). Factor V: a combination of Dr Jekyll and Mr Hyde. Blood 101: 20-30 [Full Text]  
• Deguchi, H., Fernandez, J. A., Griffin, J. H. (2002). Neutral Glycosphingolipid-dependent Inactivation of Coagulation Factor Va by Activated Protein C and Protein S. J. Biol. Chem. 277: 8861-8865 [Abstract] [Full Text]  
• Deguchi, H., Fernandez, J. A., Pabinger, I., Heit, J. A., Griffin, J. H. (2001). Plasma glucosylceramide deficiency as potential risk factor for venous thrombosis and modulator of anticoagulant protein C pathway. Blood 97: 1907-1914 [Abstract] [Full Text]  
• Matitiau, A., Tabachnik, E., Sthoeger, D., Birk, E. (2001). Thrombus in the Left Ventricle of a Child With Systemic Emboli: An Unusual Presentation of Hereditary Protein C Deficiency. Pediatrics 107: 421-422 [Abstract] [Full Text]  
• Nair, K S, Weerasinghe, A, Dahdal, M, Gibbs, J S. R, Anderson, J R (2001). Cardiac intraventricular thrombus in protein C deficiency. JRSM 94: 641-642 [Full Text]  
• Monagle, P., Michelson, A. D., Bovill, E., Andrew, M. (2001). Antithrombotic Therapy in Children. Chest 119: 344S-370S [Full Text]  
• Waugh, J. M., Li-Hawkins, J., Yuksel, E., Kuo, M. D., Cifra, P. N., Hilfiker, P. R., Geske, R., Chawla, M., Thomas, J., Shenaq, S. M., Dake, M. D., Woo, S. L. C. (2000). Thrombomodulin Overexpression to Limit Neointima Formation. Circulation 102: 332-337 [Abstract] [Full Text]  
• Gale, A. J., Heeb, M. J., Griffin, J. H. (2000). The autolysis loop of activated protein C interacts with factor Va and differentiates between the Arg506 and Arg306 cleavage sites. Blood 96: 585-593 [Abstract] [Full Text]  
• Gu, J.-M., Katsuura, Y., Ferrell, G. L., Grammas, P., Esmon, C. T. (2000). Endotoxin and thrombin elevate rodent endothelial cell protein C receptor mRNA levels and increase receptor shedding in vivo. Blood 95: 1687-1693 [Abstract] [Full Text]  
• Petaja, J., Pesonen, E., Fernandez, J. A., Vento, A. E., Ramo, O. J., Griffin, J. H. (1999). CARDIOPULMONARY BYPASS AND ACTIVATION OF ANTITHROMBOTIC PLASMA PROTEIN C. J. Thorac. Cardiovasc. Surg. 118: 422-429 [Abstract] [Full Text]  
• Waugh, J. M., Yuksel, E., Li, J., Kuo, M. D., Kattash, M., Saxena, R., Geske, R., Thung, S. N., Shenaq, S. M., Woo, S. L. C. (1999). Local Overexpression of Thrombomodulin for In Vivo Prevention of Arterial Thrombosis in a Rabbit Model. Circ. Res. 84: 84-92 [Abstract] [Full Text]  
• Kyrle, P. A., Mannhalter, C., Beguin, S., Stumpflen, A., Hirschl, M., Weltermann, A., Stain, M., Brenner, B., Speiser, W., Pabinger, I., Lechner, K., Eichinger, S. (1998). Clinical Studies and Thrombin Generation in Patients Homozygous or Heterozygous for the G20210A Mutation in the Prothrombin Gene. Arterioscler. Thromb. Vasc. Bio. 18: 1287-1291 [Abstract] [Full Text]  
• Yamamoto, K., Loskutoff, D. J. (1998). Extrahepatic Expression and Regulation of Protein C in the Mouse. Am. J. Pathol. 153: 547-555 [Abstract] [Full Text]  
• Spek, C. A., Lannoy, V. J., Lemaigre, F. P., Rousseau, G. G., Bertina, R. M., Reitsma, P. H. (1998). Type I Protein C Deficiency Caused by Disruption of a Hepatocyte Nuclear Factor (HNF)-6/HNF-1 Binding Site in the Human Protein C Gene Promoter. J. Biol. Chem. 273: 10168-10173 [Abstract] [Full Text]  
• Bick, R. L., Kaplan, H. (1998). Syndromes of Thrombosis and Hypercoagulability: Congenital and Acquired Thrombophilias. CLIN APPL THROMB HEMOST 4: 25-50 [Abstract]  
• Dudek, A. Z., Pennell, C. A., Decker, T. D., Young, T. A., Key, N. S., Slungaard, A. (1997). Platelet Factor 4 Binds to Glycanated Forms of Thrombomodulin and to Protein C. A POTENTIAL MECHANISM FOR ENHANCING GENERATION OF ACTIVATED PROTEIN C. J. Biol. Chem. 272: 31785-31792 [Abstract] [Full Text]  
• Mac Hale, J. L., Nathan, N., D'Ambra, M. (1997). Intrinsic Anticoagulation: Protein C, Protein S, and Thrombomodulin. SEMIN CARDIOTHORAC VASC ANESTH 1: 319-332 [Abstract]  
• Cadroy, Y., Diquelou, A., Dupouy, D., Bossavy, J.P., Sakariassen, K.S., Sie, P., Boneu, B. (1997). The Thrombomodulin/Protein C/Protein S Anticoagulant Pathway Modulates the Thrombogenic Properties of the Normal Resting and Stimulated Endothelium. Arterioscler. Thromb. Vasc. Bio. 17: 520-527 [Abstract] [Full Text]  
• Conway, E. M., Pollefeyt, S., Collen, D., Steiner-Mosonyi, M. (1997). The Amino Terminal Lectin-Like Domain of Thrombomodulin Is Required for Constitutive Endocytosis. Blood 89: 652-661 [Abstract] [Full Text]  
• Tam, D. A. (1997). Protein C and Protein S Activity in Sickle Cell Disease and Stroke. J Child Neurol 12: 19-21 [Abstract]  
• van den Belt, A. G. M., Prins, M. H., Huisman, M. V., Hirsh, J. (1996). Familial Thrombophilia: A Review Analysis. CLIN APPL THROMB HEMOST 2: 227-236 [Abstract]  
• Spek, C. A., Greengard, J. S., Griffin, J. H., Bertina, R. M., Reitsma, P. H. (1995). Two Mutations in the Promoter Region of the Human Protein C Gene Both Cause Type I Protein C Deficiency by Disruption of Two HNF-3 Binding Sites. J. Biol. Chem. 270: 24216-24221 [Abstract] [Full Text]  
• Atalay, S., Imamoglu, A., Ikizler, C., Uluoglu, O., Ocal, B. (1995). Mitral Valve and Left Ventricular Thrombi in an Infant with Acquired Protein C Deficiency: A Case Report. ANGIOLOGY 46: 87-90 [Abstract]  
• Greengard, J. S., Eichinger, S., Griffin, J. H., Bauer, K. A. (1994). Variability of Thrombosis among Homozygous Siblings with Resistance to Activated Protein C Due to an Arg-to-Gln Mutation in the Gene for Factor V. NEJM 331: 1559-1562 [Full Text]  
• Riela, A. R., Roach, E. S. (1993). Topical Review Article: Etiology of Stroke in Children. J Child Neurol 8: 201-220 [Abstract]  
• Simioni, P., Zanon, G., Lazzaro, A.R., Patrassi, G.M., Girolami, A. (1991). Heterozygous Protein C Deficiency Associated with Multiple Congenital Hemangiomas A Case Report. ANGIOLOGY 42: 337-342 [Abstract]  
• Esmon, C. (1987). The regulation of natural anticoagulant pathways. Science 235: 1348-1352 [Abstract]  
• Hackeng, T. M., Fernandez, J. A., Dawson, P. E., Kent, S. B. H., Griffin, J. H. (2000). Chemical synthesis and spontaneous folding of a multidomain protein: Anticoagulant microprotein S. Proc. Natl. Acad. Sci. USA 97: 14074-14078 [Abstract] [Full Text]