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C1-inhibitor (C1-inh, C1 esterase inhibitor) is a protease inhibitor belonging to the serpin superfamily. [5] Its main function is the inhibition of the complement system (C1r, C1s) to prevent spontaneous activation but also as the major regulator of the contact system (PK, FXIIa, and FXIa).
To help confirm cases of acquired angioedema, the following pattern of complement studies are observed: low C4 level, low C1-INH protein level, low C1q level, and decreased C1-INH protein function. [17] [18] This figure provides a diagnostic approach to C1 inhibitor deficiency. [18]
Normal C1 inhibitor level hereditary angioedema is thought to involve various mutations that increased bradykinin activity and cause a decreased threshold for activation of the plasma contact system thus leading to the symptoms of angioedema. [7] Hereditary angioedema with normal C1-inhibitor is a genetically heterogeneous disorder.
A C1-INH concentrate can be used for angio-oedema (C1-INH deficiency). [2] [3] Pneumococcus and Haemophilus infections can be prevented via immunization. [2] Epsilon-aminocaproic acid could be used to treat hereditary C1-INH deficiency, though the possible side effect of intravascular thrombosis should be weighed. [7]
As a result, C1-inhibitor levels of less than 50% of the standard lead to increased vascular permeability, characteristic of angioedema. [12] Cinryze, a human plasma derived C1-esterase inhibitor, has been approved for use in 2008 for the prevention of hereditary angioedema attacks. [14] [15]
716 317677 Ensembl ENSG00000182326 ENSMUSG00000079343 UniProt P09871 Q8CFG8 RefSeq (mRNA) NM_001734 NM_201442 NM_001346850 NM_173864 RefSeq (protein) NP_001333779 NP_001725 NP_958850 NP_776289 Location (UCSC) Chr 12: 6.99 – 7.07 Mb Chr 6: 124.6 – 124.61 Mb PubMed search Wikidata View/Edit Human View/Edit Mouse Complement component 1s (EC 3.4.21.42, C1 esterase, activated complement C1s ...
Download QR code; Print/export Download as PDF; ... Serine protease inhibitor 7.8-20 ... C1s (C1 esterase) 2.5-3.8 ...
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