The bradykinin-forming cascade and its role in hereditary angioedema

Donaldson, 1963, A biochemical abnormality in hereditary angioneurotic edema, Am J Med, 35, 37, 10.1016/0002-9343(63)90162-1 Davis, 1988, C1 inhibitor and hereditary angioneurotic edema, Annu Rev Immunol, 6, 595, 10.1146/annurev.iy.06.040188.003115 Bock, 1986, Human C1 inhibitor: primary structure, cDNA cloning, and chromosomal localization, Biochemistry, 25, 4292, 10.1021/bi00363a018 Pappalardo, 2000, Frequent de novo mutations and exon deletions in the C1 inhibitor gene of patients with angioedema, J Allergy Clin Immunol, 106, 1147, 10.1067/mai.2000.110471 Frank, 1976, Hereditary angioedema: the clinical syndrome and its management, Ann Intern Med, 84, 580, 10.7326/0003-4819-84-5-580 Zuraw, 2008, Clinical practice: hereditary angioedema, N Engl J Med, 359, 1027, 10.1056/NEJMcp0803977 Sheffer, 1971, Histopathological and ultrastructural observations on tissues from patients with hereditary angioneurotic edema, J Allergy, 47, 292 Shah, 1995, Hereditary angioedema with recurrent abdominal pain and ascites, J Allergy Clin Immunol, 96, 259, 10.1016/S0091-6749(95)70017-X Agostoni, 2004, Hereditary and acquired angioedema: problems and progress: proceedings of the third C1 esterase inhibitor deficiency workshop and beyond, J Allergy Clin Immunol, 114, S51, 10.1016/j.jaci.2004.06.047 Frank, 2006, Hereditary angioedema: the clinical syndrome and its management in the United States, Immunol Allergy Clin North Am, 26, 653, 10.1016/j.iac.2006.09.005 Rosen, 1971, Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema, J Clin Invest, 50, 2143, 10.1172/JCI106708 Tosi, 1998, Molecular genetics of C1 inhibitor, Immunobiology, 119, 358, 10.1016/S0171-2985(98)80040-5 Cicardi, 1987, Molecular basis for the deficiency of complement 1 inhibitor in type I hereditary angioneurotic edema, J Clin Invest, 79, 698, 10.1172/JCI112873 Ernst, 1996, Impaired production of both normal and mutant C1 inhibitor proteins in type I hereditary angioedema with a duplication in exon 8, J Immunol, 157, 405, 10.4049/jimmunol.157.1.405 Zuraw, 2000, Detection of C1 inhibitor mutations in patients with hereditary angioedema, J Allergy Clin Immunol, 105, 541, 10.1067/mai.2000.104780 Tosi, 1998, Structural and functional aspects of C1-inhibitor at the gene and protein level, Immunobiology, 199, 358, 10.1016/S0171-2985(98)80040-5 Skriver, 1989, CpG mutations in the reactive site of human C1 inhibitor, J Biol Chem, 264, 3066, 10.1016/S0021-9258(18)94031-7 Bork, 2000, Hereditary angioedema with normal C1-inhibitor activity in women, Lancet, 356, 213, 10.1016/S0140-6736(00)02483-1 Bork, 2006, Hereditary angioedema with normal C1 inhibitor: clinical symptoms and course, Am J Med, 120, 987, 10.1016/j.amjmed.2007.08.021 Cichon, 2006, Increased activity of coagulation factor XII (Hageman factor) causes hereditary angioedema type III, Am J Hum Genet, 79, 1098, 10.1086/509899 Gordon, 1980, Rapid fibrinolysis, augmented Hageman factor (factor XII) titers, and decreased C1 esterase inhibitor titers in women taking oral contraceptives, J Lab Clin Med, 96, 762 Blanch, 2006, First case of homozygous C1 inhibitor deficiency, J Allergy Clin Immunol, 118, 1330, 10.1016/j.jaci.2006.07.035 Patston, 1991, Mechanism of serpin action: evidence that C1 inhibitor functions as a suicide substrate, Biochemistry, 30, 8876, 10.1021/bi00100a022 Kramer, 1993, Transinhibition of C1 inhibitor synthesis in type I hereditary angioneurotic edema, J Clin Immunol, 91, 1258 Silverberg, 1982, Enzymatic activities of activated and zymogen forms of human Hageman factor (factor XII), Blood, 60, 64, 10.1182/blood.V60.1.64.64 Silverberg, 1980, Autoactivation of human Hageman factor: demonstration utilizing a synthetic substrate, J Biol Chem, 255, 7281, 10.1016/S0021-9258(20)79699-7 Cochrane, 1973, Activation of Hageman factor in solid and fluid phases: a critical role of kallikrein, J Exp Med, 138, 1564, 10.1084/jem.138.6.1564 Dunn, 1982, The cleavage and formation of activated human Hageman factor by autodigestion and by kallikrein, J Biol Chem, 257, 1779, 10.1016/S0021-9258(19)68105-6 Dunn, 1982, Formation and structure of human Hageman factor fragments, J Clin Invest, 70, 627, 10.1172/JCI110656 Ghebrehiwet, 1983, Mechanisms of activation of the classical pathway of complement by Hageman factor fragment, J Clin Invest, 71, 1450, 10.1172/JCI110898 Mandle, 1976, Identification of prekallikrein and high-molecular-weight kininogen as a complex in human plasma, Proc Natl Acad Sci U S A, 73, 4179, 10.1073/pnas.73.11.4179 Joseph, 2009, Factor XII-independent cleavage of high molecular weight kininogen by prekallikrein and inhibition by C1 inhibitor, J Allergy Clin Immunol, 124, 143, 10.1016/j.jaci.2009.02.006 Mandle, 1977, Hageman factor substrates: human plasma prekallikrein: mechanism of activation by Hageman factor and participation in Hageman factor-dependent fibrinolysis, J Biol Chem, 252, 6097, 10.1016/S0021-9258(17)40034-2 Reddigari, 1988, Cleavage of human high-molecular weight kininogen by purified kallikreins and upon contact activation of plasma, Blood, 71, 1334, 10.1182/blood.V71.5.1334.1334 Tait, 1987, Primary structure requirements for the binding of human high molecular weight kininogen to plasma prekallikrein and factor XI, J Biol Chem, 262, 11651, 10.1016/S0021-9258(18)60859-2 Kellermann, 1986, Completion of the primary structure of human high-molecular-mass kininogen: the amino acid sequence of the entire heavy chain and evidence for its evolution by gene triplication, Eur J Biochem, 154, 471, 10.1111/j.1432-1033.1986.tb09421.x Higashiyama, 1986, Human high molecular weight kininogen as a thiol proteinase inhibitor: presence of the entire inhibition capacity in the native form of heavy chain, Biochemistry, 25, 1669, 10.1021/bi00355a034 Ishiguro, 1987, Mapping of functional domains of human high molecular weight and low molecular weight kininogens using murine monoclonal antibodies, Biochemistry, 26, 7021, 10.1021/bi00396a025 Griffin, 1978, Role of surface in surface-dependent activation of Hageman factor (blood coagulation factor XII), Proc Natl Acad Sci U S A, 75, 1998, 10.1073/pnas.75.4.1998 Weiss, 1986, The effect of C1 inhibitor upon Hageman factor autoactivation, Blood, 68, 239, 10.1182/blood.V68.1.239.239 Tankersley, 1984, Kinetics of activation and autoactivation of human factor XII, Biochemistry, 23, 273, 10.1021/bi00297a016 Griffin, 1976, Mechanisms for the involvement of high molecular weight kininogen in surface-dependent reactions of Hageman factor, Proc Natl Acad Sci U S A, 73, 2554, 10.1073/pnas.73.8.2554 Wiggins, 1977, Role of high-molecular-weight kininogen in surface-binding and activation of coagulation Factor XI and prekallikrein, Proc Natl Acad Sci U S A, 74, 4636, 10.1073/pnas.74.10.4636 Silverberg, 1980, The mechanism by which the light chain of cleaved HMW-kininogen augments the activation of prekallikrein, factor XI and Hageman factor, Thromb Res, 20, 173, 10.1016/0049-3848(80)90383-7 Gigli, 1970, Interaction of plasma kallikrein with the C1 inhibitor, J Immunol, 104, 574, 10.4049/jimmunol.104.3.574 Schreiber, 1973, Inhibition by C1INH of Hagemann factor fragment activation of coagulation, fibrinolysis, and kinin generation, J Clin Invest, 52, 1402, 10.1172/JCI107313 Ziccardi, 1982, Spontaneous activation of the first component of human complement (C1) by an intramolecular autocatalytic mechanism, J Immunol, 128, 2500, 10.4049/jimmunol.128.6.2500 Cugno, 1990, Plasma levels of C1-inhibitor complexes and cleaved C1-inhibitor in patients with hereditary angioneurotic edema, J Clin Invest, 85, 1215, 10.1172/JCI114555 Landerman, 1962, Hereditary angioneurotic edema, II: deficiency of inhibitor for serum globulin permeability factor and/or plasma kallikrein, J Allergy, 33, 330, 10.1016/0021-8707(62)90032-1 Kaplan, 1970, A pre-albumin activator of prekallikrein, J Immunol, 105, 802, 10.4049/jimmunol.105.4.802 Donaldson, 1977, Role of the second component of complement (C2) and plasmin in kinin release in hereditary angioneurotic edema (H.A.N.E.) plasma, Trans Assoc Am Phys, 90, 174 Klemperer, 1968, Effect of C'1 esterase on vascular permeability in man: studies in normal and complement-deficient individuals and in patients with hereditary angioneurotic edema, J Clin Invest, 47, 604, 10.1172/JCI105756 Strang, 1986, C1s-induced vascular permeability in C2-deficient guinea pigs, J Immunol, 137, 631, 10.4049/jimmunol.137.2.631 Donaldson, 1968, Mechanisms of activation of C'1 esterase in hereditary angioneurotic edema plasma in vitro, J Exp Med, 127, 411, 10.1084/jem.127.3.411 Curd, 1980, Detection of active kallikrein in induced blister fluids of hereditary angioedema patients, N Engl J Med, 152, 742 Fields, 1983, Kinin formation in hereditary angioedema plasma: evidence against kinin derivation from C2 and in support of “spontaneous” formation of bradykinin, J Allergy Clin Immunol, 72, 54, 10.1016/0091-6749(83)90052-0 Smith, 1985, Cleavage of the second component of complement by plasma proteases: implications in hereditary C1-inhibitor deficiency, Immunology, 56, 561 Shoemaker, 1994, Hereditary angioneurotic oedema: characterization of plasma kinin and vascular permeability-enhancing activities, Clin Exp Immunol, 95, 22, 10.1111/j.1365-2249.1994.tb06009.x Schapira, 1983, Prekallikrein activation and high-molecular-weight kininogen consumption in hereditary angioedema, N Engl J Med, 308, 1050, 10.1056/NEJM198305053081802 Cugno, 1996, Activation of factor XII and cleavage of high molecular weight kininogen during acute attacks in hereditary and acquired C1-inhibitor deficiencies, Immunopharmacology, 33, 361, 10.1016/0162-3109(96)00086-0 Nussberger, 1999, Local bradykinin generation in hereditary angioedema, J Allergy Clin Immunol, 104, 1321, 10.1016/S0091-6749(99)70030-8 Han, 2002, Increased vascular permeability in C1 inhibitor-deficient mice mediated by the bradykinin type 2 receptor, J Clin Invest, 8, 1057, 10.1172/JCI200214211 Zahedi, 1995, Unique C1 inhibitor dysfunction in a kindred without angioedema, II: identification of an Ala443→Val substitution and functional analysis of the recombinant mutant protein, J Clin Invest, 95, 1299, 10.1172/JCI117780 Schmaier, 1988, The expression of high molecular weight kininogen on human umbilical vein endothelial cells, J Biol Chem, 263, 16327, 10.1016/S0021-9258(18)37596-3 Reddigari, 1993, Human Hageman factor (factor XII) and high molecular weight kininogen compete for the same binding site on human umbilical vein endothelial cells, J Biol Chem, 268, 11982, 10.1016/S0021-9258(19)50297-6 Joseph, 1996, Identification of the zinc-dependent endothelial cell binding protein for high molecular weight kininogen and factor XII: identity with the receptor that binds to the globular “heads” of C1q (gC1q-R), Proc Natl Acad Sci U S A, 93, 8552, 10.1073/pnas.93.16.8552 Colman, 1997, Binding of high molecular weight kininogen to human endothelial cells is mediated via a site within domains 2 and 3 of the urokinase receptor, J Clin Invest, 100, 1481, 10.1172/JCI119669 Mahdi, 2002, Factor XII interacts with the multiprotein assembly of urokinase plasminogen activator receptor, gC1qR, and cytokeratin 1 on endothelial cell membranes, Blood, 99, 3585, 10.1182/blood.V99.10.3585 Hasan, 1998, Identification of cytokeratin 1 as a binding protein and presentation receptor for kininogens on endothelial cells, Proc Natl Acad Sci U S A, 95, 3615, 10.1073/pnas.95.7.3615 Joseph, 1999, Cytokeratin 1 and gC1qR mediate high molecular weight kininogen binding to endothelial cells, Clin Immunol, 92, 246, 10.1006/clim.1999.4753 Reddigari, 1993, Human high molecular weight kininogen binds to human umbilical vein endothelial cells via its heavy and light chains, Blood, 81, 1306, 10.1182/blood.V81.5.1306.1306 Shariat-Madar, 1999, Mapping binding domains of kininogens on endothelial cell cytokeratin 1, J Biol Chem, 274, 7137, 10.1074/jbc.274.11.7137 Joseph, 2004, Interaction of high molecular weight kininogen binding proteins on endothelial cells, Thromb Haemost, 91, 61, 10.1160/TH03-07-0471 Fernando, 2003, High molecular weight kininogen and factor XII binding to endothelial cells and astrocytes, Thromb Haemost, 90, 787, 10.1160/TH03-04-0231 Fernando, 2005, Assembly, activation, and signaling by kinin-forming proteins on human vascular smooth muscle cells, Am J Physiol Heart Circ Physiol, 289, H251, 10.1152/ajpheart.00206.2004 Zhao, 2001, Assembly and activation of HK-PK complex on endothelial cells results in bradykinin liberation and NO formation, Am J Physiol Heart Circ Physiol, 280, H1821, 10.1152/ajpheart.2001.280.4.H1821 Joseph, 2002, Heat shock protein 90 catalyzes activation of the prekallikrein-kininogen complex in the absence of factor XII, Proc Natl Acad Sci U S A, 99, 896, 10.1073/pnas.022626899 Shariat-Madar, 2002, Identification and characterization of prolylcarboxypeptidase as an endothelial cell prekallikrein activator, J Biol Chem, 277, 17962, 10.1074/jbc.M106101200 Joseph, 2001, Factor XII-dependent contact activation on endothelial cells and binding proteins gC1qR and cytokeratin 1, Thromb Haemost, 85, 119, 10.1055/s-0037-1612914 Joseph, 2001, Activation of the kinin-forming cascade on the surface of endothelial cells, Biol Chem, 382, 71, 10.1515/BC.2001.012 Motta, 1998, High molecular weight kininogen regulates prekallikrein assembly and activation on endothelial cells: a novel mechanism for contact activation, Blood, 91, 516, 10.1182/blood.V91.2.516 Joseph, 2008, Studies of the mechanism of bradykinin formation in hereditary angioedema plasma, Ann Allergy Asthma Immunol, 101, 279, 10.1016/S1081-1206(10)60493-0 Cochrane, 1980, Dissemination of contact activation in plasma by plasma kallikrein, J Exp Med, 152, 608, 10.1084/jem.152.3.608 Frank, 1972, Epsilon aminocaproic acid therapy of hereditary angioneurotic edema: a double-blind study, N Engl J Med, 286, 808, 10.1056/NEJM197204132861503 Sheffer, 1972, Tranexamic acid therapy in hereditary angioneurotic edema, N Engl J Med, 287, 452, 10.1056/NEJM197208312870907 Wallace, 1997, Degradation of C1-inhibitor by plasmin: implications for the control of inflammatory processes, Mol Med, 3, 385, 10.1007/BF03401685 Kaplan, 1971, A prealbumin activator of prekallikrein, II: derivation of activators of prekallikrein from active Hageman factor by digestion with plasmin, J Exp Med, 133, 696, 10.1084/jem.133.4.696 Cugno, 1993, Generation of plasmin during acute attacks of hereditary angioedema, J Lab Clin Med, 121, 38 Zuraw, 2005, Current and future therapy for hereditary angioedema, Clin Immunol, 114, 10, 10.1016/j.clim.2004.08.001 Prematta, 2007, Fresh frozen plasma for the treatment of hereditary angioedema, Ann Allergy Asthma Immunol, 98, 383, 10.1016/S1081-1206(10)60886-1 Gelfand, 1976, Treatment of hereditary angioedema with danazol: reversal of clinical and biochemical abnormalities, N Engl J Med, 295, 1444, 10.1056/NEJM197612232952602 Sloane, 2007, Hereditary angioedema: safety of long-term stanozolol therapy, J Allergy Clin Immunol, 120, 654, 10.1016/j.jaci.2007.06.037 Cicardi, 1997, Side effects of long-term prophylaxis with attenuated androgens in hereditary angioedema: comparison of treated and untreated patients, J Allergy Clin Immunol, 99, 194, 10.1016/S0091-6749(97)70095-2 Gompels, 2005, C1 inhibitor deficiency: consensus document, Clin Exp Immunol, 139, 379, 10.1111/j.1365-2249.2005.02726.x Farkas, 2007, Hereditary angioedema: a decade of human C1-inhibitor concentrate therapy, J Allergy Clin Immunol, 120, 941, 10.1016/j.jaci.2007.06.026 Frank, 2004, Hereditary angioedema: a half century of progress, J Allergy Clin Immunol, 114, 626, 10.1016/j.jaci.2004.06.035 Joseph, 2009, Infusion of C1 inhibitor as therapy for swelling in hereditary angioedema patients reverses abnormalities of the plasma bradykinin-forming pathways and fibrinolysis, J Allergy Clin Immunol, 123, S102, 10.1016/j.jaci.2008.12.370 2009 Levy, 2008, Results of a phase 3 double-blind placebo-controlled trial, edema 3: a study of subcutaneous DX-88 (ecallantide) in patients with hereditary angioedema, Ann Allergy Asthma Immunol, 100, A6 Schneider, 2007, Critical role of kallikrein in hereditary angioedema pathogenesis: a clinical trial of ecallantide, a novel kallikrein inhibitor, J Allergy Clin Immunol, 120, 416, 10.1016/j.jaci.2007.04.028 Zingale, 2007, Anaphylaxis in response to C1 esterase inhibitor in a patient with hereditary angioedema: successful treatment with DX088, a human plasma kallikrein inhibitor, Allergy Clin Immunol Int, 19, 159, 10.1027/0838-1925.19.4.159 Bork, 2007, Treatment of acute edema attacks in hereditary angioedema with a bradykinin receptor-2 antagonist (Icatibant), J Allergy Clin Immunol, 119, 1497, 10.1016/j.jaci.2007.02.012