A mechanism for hereditary angioedema with normal C1 inhibitor: an inhibitory regulatory role for the factor XII heavy chain.
Angioedemas, Hereditary
Animals
Arginine
/ chemistry
Blood Coagulation
Bradykinin
/ blood
Catalysis
Complement C1 Inhibitor Protein
/ chemistry
Factor XII
/ chemistry
Factor XIIa
/ chemistry
Factor XIa
/ chemistry
HEK293 Cells
Hereditary Angioedema Type III
/ blood
Humans
Kininogens
/ blood
Lysine
/ chemistry
Mice
Mice, Inbred C57BL
Plasma Kallikrein
/ chemistry
Prekallikrein
/ chemistry
Protein Binding
Recombinant Proteins
/ chemistry
Surface Properties
Thrombin
/ genetics
Journal
Blood
ISSN: 1528-0020
Titre abrégé: Blood
Pays: United States
ID NLM: 7603509
Informations de publication
Date de publication:
07 03 2019
07 03 2019
Historique:
received:
29
06
2018
accepted:
13
12
2018
pmc-release:
07
03
2020
pubmed:
29
12
2018
medline:
13
11
2019
entrez:
29
12
2018
Statut:
ppublish
Résumé
The plasma proteins factor XII (FXII) and prekallikrein (PK) undergo reciprocal activation to the proteases FXIIa and kallikrein by a process that is enhanced by surfaces (contact activation) and regulated by the serpin C1 inhibitor. Kallikrein cleaves high-molecular-weight kininogen (HK), releasing the vasoactive peptide bradykinin. Patients with hereditary angioedema (HAE) experience episodes of soft tissue swelling as a consequence of unregulated kallikrein activity or increased prekallikrein activation. Although most HAE cases are caused by reduced plasma C1-inhibitor activity, HAE has been linked to lysine/arginine substitutions for Thr
Identifiants
pubmed: 30591525
pii: S0006-4971(20)42733-8
doi: 10.1182/blood-2018-06-860270
pmc: PMC6405335
doi:
Substances chimiques
Complement C1 Inhibitor Protein
0
KNG1 protein, human
0
Kininogens
0
Recombinant Proteins
0
SERPING1 protein, human
0
Serping1 protein, mouse
0
Factor XII
9001-30-3
Prekallikrein
9055-02-1
Arginine
94ZLA3W45F
Factor XIa
EC 3.4.21.27
Plasma Kallikrein
EC 3.4.21.34
Factor XIIa
EC 3.4.21.38
Thrombin
EC 3.4.21.5
Lysine
K3Z4F929H6
Bradykinin
S8TIM42R2W
Types de publication
Journal Article
Research Support, N.I.H., Extramural
Langues
eng
Sous-ensembles de citation
IM
Pagination
1152-1163Subventions
Organisme : NHLBI NIH HHS
ID : R01 HL130018
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL080018
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL058837
Pays : United States
Organisme : NHLBI NIH HHS
ID : R35 HL140025
Pays : United States
Organisme : NHLBI NIH HHS
ID : R01 HL081326
Pays : United States
Commentaires et corrections
Type : CommentIn
Informations de copyright
© 2019 by The American Society of Hematology.
Références
Circulation. 1995 Jan 1;91(1):28-36
pubmed: 7805216
Eur J Biochem. 1996 May 15;238(1):240-9
pubmed: 8665943
Immunol Allergy Clin North Am. 2017 Aug;37(3):571-584
pubmed: 28687110
Immunol Allergy Clin North Am. 2017 Aug;37(3):467-481
pubmed: 28687103
Clin Immunol. 2011 Oct;141(1):31-5
pubmed: 21849258
Front Med (Lausanne). 2016 Nov 04;3:52
pubmed: 27867935
Protein Sci. 1995 Mar;4(3):337-60
pubmed: 7795518
Front Med (Lausanne). 2018 Jan 25;5:3
pubmed: 29423395
Ann Allergy Asthma Immunol. 2018 Aug;121(2):248-249
pubmed: 29730014
J Thromb Haemost. 2016 Jan;14(1):28-39
pubmed: 26565070
FEBS J. 2008 Mar;275(5):1003-17
pubmed: 18221492
Chem Immunol Allergy. 2014;100:140-7
pubmed: 24925394
Thromb Res. 2018 Jan;161:94-105
pubmed: 29223926
Blood. 2008 Feb 1;111(3):1274-81
pubmed: 18000168
J Allergy Clin Immunol. 2018 Mar;141(3):884-885
pubmed: 29410040
J Allergy Clin Immunol. 2016 Nov;138(5):1414-1423.e9
pubmed: 27130860
Blood. 1995 Dec 1;86(11):4134-43
pubmed: 7492770
Clin Exp Immunol. 2016 Sep;185(3):332-7
pubmed: 27271546
J Biol Chem. 2014 Aug 22;289(34):23596-608
pubmed: 24970892
Thromb Res. 1988 Jan 15;49(2):253-63
pubmed: 3129817
Blood. 2011 Jul 14;118(2):437-45
pubmed: 21527525
Biochem Biophys Res Commun. 2006 May 19;343(4):1286-9
pubmed: 16638441
Thromb Haemost. 2000 Dec;84(6):1057-65
pubmed: 11154114
Biochemistry. 1989 May 16;28(10):4517-22
pubmed: 2504279
Blood. 2011 Nov 10;118(19):5302-11
pubmed: 21821705
Thromb Res. 2016 Apr;140:118-124
pubmed: 26950760
J Thromb Haemost. 2016 Mar;14(3):427-37
pubmed: 26707513
J Clin Invest. 2015 Aug 3;125(8):3132-46
pubmed: 26193639
Nat Med. 2011 Feb;17(2):206-10
pubmed: 21258336
J Thromb Haemost. 2016 Aug;14(8):1498-506
pubmed: 27282310
N Engl J Med. 2017 Feb 23;376(8):717-728
pubmed: 28225674
Clin Rev Allergy Immunol. 2018 Feb;54(1):88-101
pubmed: 28748365
Curr Opin Hematol. 2017 Sep;24(5):411-418
pubmed: 28604413
Curr Opin Hematol. 2016 Sep;23(5):445-52
pubmed: 27380557
Res Pract Thromb Haemost. 2018 Jan;2(1):168-173
pubmed: 29354798
Blood Adv. 2018 Mar 13;2(5):549-558
pubmed: 29519898
Blood. 2015 Jan 22;125(4):710-9
pubmed: 25339356
J Biol Chem. 1985 Nov 5;260(25):13666-76
pubmed: 3877053
Immunol Allergy Clin North Am. 2017 Aug;37(3):585-595
pubmed: 28687111
Ann Allergy Asthma Immunol. 2016 Nov;117(5):520-526
pubmed: 27788882
Immunol Allergy Clin North Am. 2017 Aug;37(3):513-525
pubmed: 28687106
Int J Hematol. 2017 Mar;105(3):235-243
pubmed: 27848184
Blood. 2017 Mar 16;129(11):1527-1537
pubmed: 28069606
Int Arch Allergy Immunol. 2018;175(3):126-135
pubmed: 29393169
Blood Coagul Fibrinolysis. 1997 Mar;8(2):134-44
pubmed: 9518045
J Allergy Clin Immunol. 2017 Dec;140(6):1700-1703.e8
pubmed: 28782632
Front Med (Lausanne). 2017 Nov 22;4:206
pubmed: 29214154
Blood. 2018 Apr 26;131(17):1903-1909
pubmed: 29483100
Allergy. 2018 Sep;73(9):1871-1880
pubmed: 29688579
J Allergy Clin Immunol Pract. 2018 Jul - Aug;6(4):1209-1216.e8
pubmed: 29128335
Blood. 2014 Mar 13;123(11):1739-46
pubmed: 24408325
Trends Biotechnol. 2011 Nov;29(11):577-85
pubmed: 21726912
Semin Thromb Hemost. 2006 Apr;32 Suppl 1:3-15
pubmed: 16673262
J Thromb Haemost. 2018 Nov;16(11):2349-2351
pubmed: 30129108