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Dysfunctional alternative complement pathway

MedGen UID:
326496
•Concept ID:
C1839458
•
Finding
HPO: HP:0005423

Definition

An abnormality of the functioning of any aspect of the alternative complement pathway. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVDysfunctional alternative complement pathway

Conditions with this feature

Properdin deficiency, X-linked
MedGen UID:
333322
•Concept ID:
C1839454
•
Disease or Syndrome
Properdin (factor P) is a plasma protein that is active in the alternative complement pathway of the innate immune system. It is a positive regulatory factor that binds to many microbial surfaces to stabilize the C3b,Bb convertase. Deficiency of properdin is associated in particular with a heightened susceptibility to Neisseria species (Janeway et al., 2001).
See: Condition Record
Properdin deficiency, X-linked

Professional guidelines

PubMed

C3 Glomerulopathy: Pathogenesis and Treatment.
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242
Small-molecule factor B inhibitor for the treatment of complement-mediated diseases.
Schubart A, Anderson K, Mainolfi N, Sellner H, Ehara T, Adams CM, Mac Sweeney A, Liao SM, Crowley M, Littlewood-Evans A, Sarret S, Wieczorek G, Perrot L, Dubost V, Flandre T, Zhang Y, Smith RJH, Risitano AM, Karki RG, Zhang C, Valeur E, Sirockin F, Gerhartz B, Erbel P, Hughes N, Smith TM, Cumin F, Argikar UA, Haraldsson B, Mogi M, Sedrani R, Wiesmann C, Jaffee B, Maibaum J, Flohr S, Harrison R, Eder J
Proc Natl Acad Sci U S A 2019 Apr 16;116(16):7926-7931. Epub 2019 Mar 29 doi: 10.1073/pnas.1820892116. PMID: 30926668Free PMC Article
Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment.
Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946

Recent clinical studies

Etiology

Short-term prophylaxis for children and adolescents with hereditary angioedema.
Ajewole O, Lanlokun M, Dimanche S, Craig T
Allergy Asthma Proc 2021 May 1;42(3):205-213. doi: 10.2500/aap.2021.42.210006. PMID: 33980333
The complement system in age-related macular degeneration.
Armento A, Ueffing M, Clark SJ
Cell Mol Life Sci 2021 May;78(10):4487-4505. Epub 2021 Mar 9 doi: 10.1007/s00018-021-03796-9. PMID: 33751148Free PMC Article
Complement dysregulation in glomerulonephritis.
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Atypical hemolytic uremic syndrome: Laboratory characteristics, complement-amplifying conditions, renal biopsy, and genetic mutations.
Hossain MA, Cheema A, Kalathil S, Bajwa R, Costanzo EJ, Cosentino J, Cheng J, Vachharajani T, Asif A
Saudi J Kidney Dis Transpl 2018 Mar-Apr;29(2):276-283. doi: 10.4103/1319-2442.229287. PMID: 29657193
Pathophysiology of thrombotic thrombocytopenic purpura and hemolytic uremic syndrome.
Kremer Hovinga JA, Heeb SR, Skowronska M, Schaller M
J Thromb Haemost 2018 Apr;16(4):618-629. Epub 2018 Feb 17 doi: 10.1111/jth.13956. PMID: 29356300

Diagnosis

HUS and TTP: traversing the disease and the age spectrum.
Donadelli R, Sinha A, Bagga A, Noris M, Remuzzi G
Semin Nephrol 2023 Jul;43(4):151436. Epub 2023 Nov 10 doi: 10.1016/j.semnephrol.2023.151436. PMID: 37949684
Short-term prophylaxis for children and adolescents with hereditary angioedema.
Ajewole O, Lanlokun M, Dimanche S, Craig T
Allergy Asthma Proc 2021 May 1;42(3):205-213. doi: 10.2500/aap.2021.42.210006. PMID: 33980333
A Review of Complement Activation in SLE.
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
Complement dysregulation in glomerulonephritis.
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
Atypical Hemolytic-Uremic Syndrome: An Update on Pathophysiology, Diagnosis, and Treatment.
Raina R, Krishnappa V, Blaha T, Kann T, Hein W, Burke L, Bagga A
Ther Apher Dial 2019 Feb;23(1):4-21. Epub 2018 Oct 29 doi: 10.1111/1744-9987.12763. PMID: 30294946

Therapy

C3 Glomerulopathy: Pathogenesis and Treatment.
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242
Modulation of three key innate immune pathways for the most common retinal degenerative diseases.
Akhtar-Schäfer I, Wang L, Krohne TU, Xu H, Langmann T
EMBO Mol Med 2018 Oct;10(10) doi: 10.15252/emmm.201708259. PMID: 30224384Free PMC Article
Pathogenesis and treatment of ANCA-associated vasculitis-a role for complement.
Noone D, Hebert D, Licht C
Pediatr Nephrol 2018 Jan;33(1):1-11. Epub 2016 Sep 5 doi: 10.1007/s00467-016-3475-5. PMID: 27596099
Thrombotic thrombocytopenic purpura and the hemolytic-uremic syndrome.
Baker KR, Moake JL
Curr Opin Pediatr 2000 Feb;12(1):23-8. doi: 10.1097/00008480-200002000-00005. PMID: 10676770
Polymorphonuclear granulocyte stimulation by cellulose-based hemodialysis membranes.
Körmöczi GF, Rosenkranz AR, Zlabinger GJ
Clin Chem Lab Med 1999 Mar;37(3):351-5. doi: 10.1515/CCLM.1999.058. PMID: 10353482

Prognosis

The complement system in age-related macular degeneration.
Armento A, Ueffing M, Clark SJ
Cell Mol Life Sci 2021 May;78(10):4487-4505. Epub 2021 Mar 9 doi: 10.1007/s00018-021-03796-9. PMID: 33751148Free PMC Article
A Review of Complement Activation in SLE.
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
C3 Glomerulopathy: Pathogenesis and Treatment.
Ahmad SB, Bomback AS
Adv Chronic Kidney Dis 2020 Mar;27(2):104-110. doi: 10.1053/j.ackd.2019.12.003. PMID: 32553242
Complement dysregulation in glomerulonephritis.
Kaartinen K, Safa A, Kotha S, Ratti G, Meri S
Semin Immunol 2019 Oct;45:101331. Epub 2019 Nov 9 doi: 10.1016/j.smim.2019.101331. PMID: 31711769
HUS and TTP in Children.
Trachtman H
Pediatr Clin North Am 2013 Dec;60(6):1513-26. doi: 10.1016/j.pcl.2013.08.007. PMID: 24237985Free PMC Article

Clinical prediction guides

The complement system in age-related macular degeneration.
Armento A, Ueffing M, Clark SJ
Cell Mol Life Sci 2021 May;78(10):4487-4505. Epub 2021 Mar 9 doi: 10.1007/s00018-021-03796-9. PMID: 33751148Free PMC Article
A Review of Complement Activation in SLE.
Weinstein A, Alexander RV, Zack DJ
Curr Rheumatol Rep 2021 Feb 10;23(3):16. doi: 10.1007/s11926-021-00984-1. PMID: 33569681Free PMC Article
New insights into the pathogenesis of Streptococcus pneumoniae-associated hemolytic uremic syndrome.
Scobell RR, Kaplan BS, Copelovitch L
Pediatr Nephrol 2020 Sep;35(9):1585-1591. Epub 2019 Sep 13 doi: 10.1007/s00467-019-04342-3. PMID: 31515631
Atypical hemolytic uremic syndrome: Laboratory characteristics, complement-amplifying conditions, renal biopsy, and genetic mutations.
Hossain MA, Cheema A, Kalathil S, Bajwa R, Costanzo EJ, Cosentino J, Cheng J, Vachharajani T, Asif A
Saudi J Kidney Dis Transpl 2018 Mar-Apr;29(2):276-283. doi: 10.4103/1319-2442.229287. PMID: 29657193
C3 glomerulonephritis and dense deposit disease share a similar disease course in a large United States cohort of patients with C3 glomerulopathy.
Bomback AS, Santoriello D, Avasare RS, Regunathan-Shenk R, Canetta PA, Ahn W, Radhakrishnan J, Marasa M, Rosenstiel PE, Herlitz LC, Markowitz GS, D'Agati VD, Appel GB
Kidney Int 2018 Apr;93(4):977-985. Epub 2018 Jan 6 doi: 10.1016/j.kint.2017.10.022. PMID: 29310824

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