Hereditary C1-esterase-inhibitor deficiency type I. Divergent clinical symptoms and laboratory findings;Hereditärer C1-esterase-inhibitor-mangel typ I. Divergenz klinischer symptomatik und laborchemischer befunde

Hautarzt

Volumn 52, Issue 5, 2001, Pages 434-438

  Liekenbrocker T ^b   Korner M ^b   Kapp, A ^b   Elsner, Jörn ^a  

^a HANNOVER MEDICAL SCHOOL   (Germany)

^b NONE

Author keywords

C1 esterase inhibitor; C1 esterase inhibitor deficiency; Hereditary angioedema

Indexed keywords

ANTIHISTAMINIC AGENT; COMPLEMENT COMPONENT C1S INHIBITOR; STEROID;

ADULT; ANGIONEUROTIC EDEMA; ARTICLE; CASE REPORT; CLINICAL FEATURE; DIAGNOSTIC TEST; DISEASE COURSE; FAMILY STUDY; FEMALE; GENETIC DISORDER; HUMAN; IMMUNOHISTOCHEMISTRY; PROTEIN DEFICIENCY; RECURRENT DISEASE; SYMPTOM;

ADULT; ANGIONEUROTIC EDEMA; ASPARAGINE; CHROMOSOME DELETION; CHROMOSOMES, HUMAN, PAIR 11; CODON; COMPLEMENT C1 INACTIVATOR PROTEINS; DIAGNOSIS, DIFFERENTIAL; FEMALE; FOLLOW-UP STUDIES; HETEROZYGOTE DETECTION; HUMANS; PHENOTYPE;

EID: 0342526730     PISSN: 00178470     EISSN: None     Source Type: Journal    
DOI: 10.1007/s001050051338     Document Type: Article

References (20)

1. Bissler JJ, Cicardi M, Donaldson VH, Gatenby PA, Rosen FS, Sheffer AL, Davis AE III (1994) A cluster of mutations within a short triplet repeat in the C1 inhibitor gene. Proc Natl Acad Sci USA 91:9622-9625
2. Cicardi M, Bergamaschini L, Cugno M, Beretta A, Zingale LC, Colombo M, Agostoni A (1998) Pathogenetic and clinical aspects of C1 inhibitor deficiency. Immunobiology 199:366-376
3. Davis, AE III, Whitehead AS, Harrison RA, Dauphinais A, Bruns GA, Cicardi M, Rosen FS (1986) Human inhibitor of the first component of complement, C1: characterization of CDNA clones and localization of the gene to chromosome 11. Proc Natl Acad Sci USA 83:3161-3165
4. DeLa Cadena RA, Wyshock EG, Kunapuli SP, Schultze RL, Miller M, Walz DA, Colman RW (1994) Platelet thrombospondin interactions with human high and low molecular weight kininogens. Thromb Haemost 72:125-131
5. Donaldson VH (1966) Serum inhibitor of C′1-esterase in health and disease. J Lab Clin Med 68:369-382
6. Donaldson VH, Rosen FS, Bing DH (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 Physicians 90:174-183
7. Fields T, Ghebrehiwet B, Kaplan AP (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 72:54-60
8. Gordon EM, Ratnoff OD, Saito H, Donaldson VH, Pensky J, Jones PK (1980) Rapid fibrinolysis, augmented Hageman factor (Factor XII) titers, and decreased C1 esterase inhibitor titers in somen taking oral contraceptives. J Lab Clin Med 96:762-769
9. Göring HD, Bork K, Späth PJ, Bauer R, Ziemer A, Hintner H, Wüthrich B (1998) Untersuchungen zum hereditären Angioödem im deutschsprachigen Raum. Hautarzt 49:114-122
10. Goti F, Melcher GA, Späth P, Wüthrich B (1998) Hereditäres Angioödem. Dtsch Med Wochenschr 123:1166-1171
11. Heymann WR (1997) Acquired angioedema. J Am Acad Dermatol 36:611-615
12. Johnson AM, Alper CA, Rosen FS, Craig JM (1971) C1 inhibitor: evidence for decreased hepatic synthesis in hereditary angioneurotic edema. Science 173:553-554
13. Lung CC, Chan EK, Zuraw BL (1997) Analysis of an exon 1 polymorphism of the B2 bradykinin receptor gene and its transcript in normal subjects and patients with C1 inhibitor deficiency. J Allergy Clin Immunol 99:134-146
14. Nussberger J, Cugno M, Amstutz C, Cicardi M, Pellacani A, Agostoni A (1998) Plasma bradykinin in angiooedema. Lancet 351:1693-1697
15. Rosen FS, Alper CA, Pensky J, Klemperer MR, Donaldson VH (1971) Genetically determined heterogeneity of the C1 esterase inhibitor in patients with hereditary angioneurotic edema. J Clin Invest 50:2143-2149
16. Shoemaker LR, Schurman SJ, Donaldson VH, Davis AE III. (1994) Hereditary angioneurotic eedema: characterization of plasma kinin and vascular permeability-enhancing activities. Clin Exp Immunol 95:22-28
17. Tosi M (1998) Molecular genetics of C1 inhibitor. Immunobiology 199:358-365
18. Verpy E, Biasotto M, Brai M, Misiano G, Meo T, Tosi M (1996) Exhaustive mutation scanning by fluorescence-assisted mismatch analysis discloses new genotype-phenotype correlations in angiodema. Am J Hum Genet 59:308-319
19. Wedi B, Wagner S, Werfel T, Manns MR, Kapp A (1998) Prevalence of helicobacter pyloriassociated gastritis in chronic urticaria. Int Arch Allergy Immunol 116:288-294
20. Zahedi R, Wisnieski J, Davis AE III (1997) Role of the P2 residue of complement 1 inhibitor (Ala443) in determination of target protease specificity: inhibition of complement and contact system proteases. J Immunol 159:983-988