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  • Wrong UID 1054007

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)
 
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

Term Hierarchy

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

Professional guidelines

PubMed

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

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
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
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
Morgan BP, Daha M, Meri S, Nicholson-Weller A
Immunol Today 2000 Dec;21(12):603-5. doi: 10.1016/s0167-5699(00)01742-4. PMID: 11188795
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

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
Kirschfink M
Immunopharmacology 1997 Dec;38(1-2):51-62. doi: 10.1016/s0162-3109(97)00057-x. PMID: 9476114
Sturtevant JE, Balber AE
Exp Parasitol 1987 Jun;63(3):260-71. doi: 10.1016/0014-4894(87)90172-x. PMID: 3556206
Gelfand JA
Clin Immunol Rev 1981-1982;1(2):257-309. PMID: 6762276

Therapy

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
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
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
Morgan BP, Daha M, Meri S, Nicholson-Weller A
Immunol Today 2000 Dec;21(12):603-5. doi: 10.1016/s0167-5699(00)01742-4. PMID: 11188795
Cheung AK, Parker CJ, Hohnholt M
Kidney Int 1993 Mar;43(3):649-60. doi: 10.1038/ki.1993.94. PMID: 8455364

Prognosis

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
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

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
Caliezi C, Wuillemin WA, Zeerleder S, Redondo M, Eisele B, Hack CE
Pharmacol Rev 2000 Mar;52(1):91-112. PMID: 10699156
Cheung AK, Parker CJ, Hohnholt M
Kidney Int 1993 Mar;43(3):649-60. doi: 10.1038/ki.1993.94. PMID: 8455364
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
Scieszka JF, Maggiora LL, Wright SD, Cho MJ
Pharm Res 1991 Jan;8(1):65-9. doi: 10.1023/a:1015830306839. PMID: 1826557

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