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Anaphylotoxin inactivator deficiency

MedGen UID:
98312
•Concept ID:
C0398782
•
Disease or Syndrome
Synonyms: Carboxypeptidase N deficiency; Deficiency of carboxypeptidase B
SNOMED CT: Deficiency of protaminase (124493003); Deficiency of carboxypeptidase B (124493003); Anaphylotoxin inactivator deficiency (234627009); Carboxypeptidase B deficiency (234627009); Carboxypeptidase N deficiency (234627009); Kininase I deficiency (234627009)
 
Gene (location): CPN1 (10q24.2)
 
Monarch Initiative: MONDO:0008910
OMIM®: 212070

Definition

An autosomal recessive condition caused by mutation(s) in the CPN1 gene, encoding carboxypeptidase N catalytic chain. It may be characterized by episodic angioedema, chronic urticaria, asthma and/or allergic hypersensitivity. [from NCI]

Clinical features

From HPO
Allergic rhinitis
MedGen UID:
382012
•Concept ID:
C2607914
•
Disease or Syndrome
It is characterized by one or more symptoms including sneezing, itching, nasal congestion, and rhinorrhea.
See: Feature record | Search on this feature
Decreased circulating carboxypeptidase N activity
MedGen UID:
1054007
•Concept ID:
CN377392
•
Finding
Activity of the enzyme Carboxypeptidase N (arginine carboxypeptidase, EC 3.4.17.3) in the blood circulation below the lower limit of normal.
See: Feature record | Search on this feature
Angioedema
MedGen UID:
1543
•Concept ID:
C0002994
•
Pathologic Function
Rapid swelling (edema) of the dermis, subcutaneous tissue, mucosa and submucosal tissues of the skin of the face, normally around the mouth, and the mucosa of the mouth and/or throat, as well as the tongue during a period of minutes to several hours. The swelling can also occur elsewhere, typically in the hands. Angioedema is similar to urticaria, but the swelling is subcutaneous rather than on the epidermis.
See: Feature record | Search on this feature
Urticaria
MedGen UID:
22587
•Concept ID:
C0042109
•
Disease or Syndrome
Raised, well-circumscribed areas of erythema and edema involving the dermis and epidermis. Urticaria is intensely pruritic, and blanches completely with pressure.
See: Feature record | Search on this feature
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Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVAnaphylotoxin inactivator deficiency

Professional guidelines

PubMed

C1-Esterase inhibitor: an anti-inflammatory agent and its potential use in the treatment of diseases other than hereditary angioedema.
Caliezi C, Wuillemin WA, Zeerleder S, Redondo M, Eisele B, Hack CE
Pharmacol Rev 2000 Mar;52(1):91-112. PMID: 10699156

Recent clinical studies

Etiology

Thrombin-activatable fibrinolysis inhibitor influences disease severity in humans and mice with pneumococcal meningitis.
Mook-Kanamori BB, Valls Serón M, Geldhoff M, Havik SR, van der Ende A, Baas F, van der Poll T, Meijers JC, P Morgan B, Brouwer MC, van de Beek D
J Thromb Haemost 2015 Nov;13(11):2076-86. Epub 2015 Oct 1 doi: 10.1111/jth.13132. PMID: 26340319
Variants in Complement Factor H and Complement Factor H-Related Protein Genes, CFHR3 and CFHR1, Affect Complement Activation in IgA Nephropathy.
Zhu L, Zhai YL, Wang FM, Hou P, Lv JC, Xu DM, Shi SF, Liu LJ, Yu F, Zhao MH, Novak J, Gharavi AG, Zhang H
J Am Soc Nephrol 2015 May;26(5):1195-204. Epub 2014 Sep 9 doi: 10.1681/ASN.2014010096. PMID: 25205734Free PMC Article
An imbalance of human complement regulatory proteins CFHR1, CFHR3 and factor H influences risk for age-related macular degeneration (AMD).
Fritsche LG, Lauer N, Hartmann A, Stippa S, Keilhauer CN, Oppermann M, Pandey MK, Köhl J, Zipfel PF, Weber BH, Skerka C
Hum Mol Genet 2010 Dec 1;19(23):4694-704. Epub 2010 Sep 15 doi: 10.1093/hmg/ddq399. PMID: 20843825
Trypanosoma lewisi: restriction of alternative complement pathway C3/C5 convertase activity.
Sturtevant JE, Balber AE
Exp Parasitol 1987 Jun;63(3):260-71. doi: 10.1016/0014-4894(87)90172-x. PMID: 3556206
Plasma protease inhibitor and anaphylatoxin inactivator levels in chronic urticaria/angioedema and in patients experiencing anaphylactoid reactions to radiographic contrast media.
Mathews KP, Pan PM, Amendola MA, Lewis FH
Int Arch Allergy Appl Immunol 1986;79(2):220-3. doi: 10.1159/000233975. PMID: 3943918

Diagnosis

Human Complement C4B Allotypes and Deficiencies in Selected Cases With Autoimmune Diseases.
Zhou D, Rudnicki M, Chua GT, Lawrance SK, Zhou B, Drew JL, Barbar-Smiley F, Armstrong TK, Hilt ME, Birmingham DJ, Passler W, Auletta JJ, Bowden SA, Hoffman RP, Wu YL, Jarjour WN, Mok CC, Ardoin SP, Lau YL, Yu CY
Front Immunol 2021;12:739430. Epub 2021 Oct 26 doi: 10.3389/fimmu.2021.739430. PMID: 34764957Free PMC Article
Controlling the complement system in inflammation.
Kirschfink M
Immunopharmacology 1997 Dec;38(1-2):51-62. doi: 10.1016/s0162-3109(97)00057-x. PMID: 9476114
Trypanosoma lewisi: restriction of alternative complement pathway C3/C5 convertase activity.
Sturtevant JE, Balber AE
Exp Parasitol 1987 Jun;63(3):260-71. doi: 10.1016/0014-4894(87)90172-x. PMID: 3556206
The role of complement in urticaria and angioedema.
Gelfand JA
Clin Immunol Rev 1981-1982;1(2):257-309. PMID: 6762276

Therapy

The Role of Complement C3a Receptor in Stroke.
Ahmad S, Bhatia K, Kindelin A, Ducruet AF
Neuromolecular Med 2019 Dec;21(4):467-473. Epub 2019 May 17 doi: 10.1007/s12017-019-08545-7. PMID: 31102134
Paroxysmal nocturnal haemoglobinuria.
Hill A, DeZern AE, Kinoshita T, Brodsky RA
Nat Rev Dis Primers 2017 May 18;3:17028. doi: 10.1038/nrdp.2017.28. PMID: 28516949Free PMC Article
Complement and periodontitis.
Hajishengallis G
Biochem Pharmacol 2010 Dec 15;80(12):1992-2001. Epub 2010 Jun 23 doi: 10.1016/j.bcp.2010.06.017. PMID: 20599785Free PMC Article
Controlling the complement system in inflammation.
Kirschfink M
Immunopharmacology 1997 Dec;38(1-2):51-62. doi: 10.1016/s0162-3109(97)00057-x. PMID: 9476114
Coagulation inhibitor substitution during sepsis.
Fourrier F, Jourdain M, Tournois A, Caron C, Goudemand J, Chopin C
Intensive Care Med 1995 Nov;21 Suppl 2:S264-8. doi: 10.1007/BF01740765. PMID: 8636534

Prognosis

C1-inhibitor substitution therapy in septic shock and in the vascular leak syndrome induced by high doses of interleukin-2.
Hack CE, Ogilvie AC, Eisele B, Eerenberg AJ, Wagstaff J, Thijs LG
Intensive Care Med 1993;19 Suppl 1:S19-28. doi: 10.1007/BF01738946. PMID: 8053997
Role of complements C3 and C5 in the phagocytosis of liposomes by human neutrophils.
Scieszka JF, Maggiora LL, Wright SD, Cho MJ
Pharm Res 1991 Jan;8(1):65-9. doi: 10.1023/a:1015830306839. PMID: 1826557

Clinical prediction guides

Attenuation of cGVHD by C5a/C5aR blockade is associated with increased frequency of Treg.
Wang Y, Lai P, Chen X, He C, Huang X, Geng S, Luo C, Wu S, Ling W, Zhong L, Lu Z, Li P, Weng J, Du X
Sci Rep 2017 Jun 15;7(1):3603. doi: 10.1038/s41598-017-03700-1. PMID: 28620195Free PMC Article
Targeting C3a/C5a receptors inhibits human mesangial cell proliferation and alleviates immunoglobulin A nephropathy in mice.
Zhang Y, Yan X, Zhao T, Xu Q, Peng Q, Hu R, Quan S, Zhou Y, Xing G
Clin Exp Immunol 2017 Jul;189(1):60-70. Epub 2017 Apr 10 doi: 10.1111/cei.12961. PMID: 28295247Free PMC Article
Complement and periodontitis.
Hajishengallis G
Biochem Pharmacol 2010 Dec 15;80(12):1992-2001. Epub 2010 Jun 23 doi: 10.1016/j.bcp.2010.06.017. PMID: 20599785Free PMC Article
C1-Esterase inhibitor: an anti-inflammatory agent and its potential use in the treatment of diseases other than hereditary angioedema.
Caliezi C, Wuillemin WA, Zeerleder S, Redondo M, Eisele B, Hack CE
Pharmacol Rev 2000 Mar;52(1):91-112. PMID: 10699156
C1-inhibitor substitution therapy in septic shock and in the vascular leak syndrome induced by high doses of interleukin-2.
Hack CE, Ogilvie AC, Eisele B, Eerenberg AJ, Wagstaff J, Thijs LG
Intensive Care Med 1993;19 Suppl 1:S19-28. doi: 10.1007/BF01738946. PMID: 8053997

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