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Anaphylotoxin inactivator deficiency(CPND)

MedGen UID:
98312
•Concept ID:
C0398782
•
Disease or Syndrome
Synonyms: Carboxypeptidase N deficiency; CPND; 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

Carboxypeptidase-N deficiency (CPND) is an autosomal recessive disorder characterized by episodic angioedema, acute or chronic urticaria, asthma, and/or allergic hypersensitivities such as hay fever. Homozygous individuals as well as their heterozygous family members have levels of carboxypeptidase N that are below the reference range, and heterozygotes are symptomatic, albeit to a generally milder degree (Mathews et al., 1980; Vincent et al., 2024). [from OMIM]

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

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
Complement inhibition keeps mothers calm and avoids fetal rejection.
Girardi G
Immunol Invest 2008;37(5):645-59. doi: 10.1080/08820130802191615. PMID: 18716942
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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