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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

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVDysfunctional alternative complement pathway

Phenotypic abnormality
- Abnormality of the immune system
  - Abnormality of immune system physiology
    - Abnormality of humoral immunity
      - Abnormality of complement system
        Abnormality of the alternative complement pathway
        Dysfunctional 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: 30926668 Free 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

See all (21)

Recent clinical studies

Etiology

Complement inhibition in paroxysmal nocturnal hemoglobinuria: From biology to therapy.

Versino F, Fattizzo B
Int J Lab Hematol 2024 May;46 Suppl 1:43-54. Epub 2024 Apr 15 doi: 10.1111/ijlh.14281. PMID: 38622956

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: 33751148 Free 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

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

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

See all (105)

Diagnosis

Management of pediatric hemolytic uremic syndrome.

Gülhan B, Özaltın F, Fidan K, Özçakar ZB, Söylemezoğlu O
Turk J Pediatr 2024;66(1):1-16. doi: 10.24953/turkjped.2023.596. PMID: 38523374

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

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: 33569681 Free 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

See all (96)

Therapy

Complement inhibition in paroxysmal nocturnal hemoglobinuria: From biology to therapy.

Versino F, Fattizzo B
Int J Lab Hematol 2024 May;46 Suppl 1:43-54. Epub 2024 Apr 15 doi: 10.1111/ijlh.14281. PMID: 38622956

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

Avacopan in the treatment of ANCA-associated vasculitis.

Tesar V, Hruskova Z
Expert Opin Investig Drugs 2018 May;27(5):491-496. Epub 2018 May 8 doi: 10.1080/13543784.2018.1472234. PMID: 29718732

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

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

See all (72)

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: 33751148 Free 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: 33569681 Free 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: 24237985 Free PMC Article

See all (70)

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: 33751148 Free 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: 33569681 Free PMC Article

The Complement Alternative Pathway and Preeclampsia.

Alrahmani L, Willrich MAV
Curr Hypertens Rep 2018 May 1;20(5):40. doi: 10.1007/s11906-018-0836-4. PMID: 29717384

C3 glomerulonephritis and dense deposit disease share a similar disease course in a large United States cohort of patients with C3 glomerulopathy.

Paroxysmal nocturnal hemoglobinuria.

Parker CJ
Curr Opin Hematol 2012 May;19(3):141-8. doi: 10.1097/MOH.0b013e328351c348. PMID: 22395662

See all (75)