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Hereditary Complement Deficiency Diseases

MedGen UID:
1676096
•Concept ID:
C5197806
•
Disease or Syndrome
Synonym: Inherited Complement Deficiency Diseases

Definition

Genetic disorders due to mutations in genes involved in COMPLEMENT SYSTEM PROTEINS. They are often classified into distinct pathway of complement activation where causative mutations are found (e.g., classical pathway, lectin pathway, alternative pathway, and terminal complement pathway). [from MeSH]

Professional guidelines

PubMed

The international WAO/EAACI guideline for the management of hereditary angioedema-The 2021 revision and update.
Maurer M, Magerl M, Betschel S, Aberer W, Ansotegui IJ, Aygören-Pürsün E, Banerji A, Bara NA, Boccon-Gibod I, Bork K, Bouillet L, Boysen HB, Brodszki N, Busse PJ, Bygum A, Caballero T, Cancian M, Castaldo A, Cohn DM, Csuka D, Farkas H, Gompels M, Gower R, Grumach AS, Guidos-Fogelbach G, Hide M, Kang HR, Kaplan AP, Katelaris C, Kiani-Alikhan S, Lei WT, Lockey R, Longhurst H, Lumry WR, MacGinnitie A, Malbran A, Martinez Saguer I, Matta JJ, Nast A, Nguyen D, Nieto-Martinez SA, Pawankar R, Peter J, Porebski G, Prior N, Reshef A, Riedl M, Ritchie B, Rafique Sheikh F, Smith WB, Spaeth PJ, Stobiecki M, Toubi E, Varga LA, Weller K, Zanichelli A, Zhi Y, Zuraw B, Craig T
Allergy 2022 Jul;77(7):1961-1990. Epub 2022 Feb 3 doi: 10.1111/all.15214. PMID: 35006617
Treatment of hereditary angioedema: When the goal is having a normal life.
Arruda LK, Ferriani MPL
J Allergy Clin Immunol 2021 Jul;148(1):80-82. Epub 2021 May 28 doi: 10.1016/j.jaci.2021.05.023. PMID: 34058236
Improving the Management of Hereditary Angioedema.
Giavina-Bianchi P, Kalil J
Clinics (Sao Paulo) 2018 May 17;73:e354. doi: 10.6061/clinics/2018/e354. PMID: 29791522Free PMC Article

Recent clinical studies

Etiology

Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Delayed Generalized Necrotic Purpuric Rash in a C6-deficient 12-year-old Girl Treated for Group W Meningococcal Disease.
Gaschignard J, Hassani N, El Sissy C, Bonacorsi S, Dauger S, Chomton M, Taha MK, Levy M
Pediatr Infect Dis J 2018 Oct;37(10):1014-1015. doi: 10.1097/INF.0000000000001966. PMID: 29474263
Familial hemolytic uremic syndrome with occurrence in the postpartum period.
Barbullushi M, Idrizi A, Spasovski G
Saudi J Kidney Dis Transpl 2017 Nov-Dec;28(6):1427-1431. doi: 10.4103/1319-2442.220859. PMID: 29265059
Association of single nucleotide polymorphism with arsenic-induced skin lesions and genetic damage in exposed population of West Bengal, India.
Das N, Giri A, Chakraborty S, Bhattacharjee P
Mutat Res Genet Toxicol Environ Mutagen 2016 Oct;809:50-56. Epub 2016 Sep 9 doi: 10.1016/j.mrgentox.2016.09.006. PMID: 27692299
Mannose-binding lectin (MBL) insufficiency protects against the development of systemic inflammatory response after pediatric cardiac surgery.
Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056

Diagnosis

Troubling Tenosynovitis: When a Serious Sign Persists.
Reed G, Dabit J, Amin S
Am J Med 2021 Sep;134(9):1107-1109. Epub 2021 Apr 1 doi: 10.1016/j.amjmed.2021.02.033. PMID: 33812863
Analysis of the Complement System in the Clinical Immunology Laboratory.
Ling M, Murali M
Clin Lab Med 2019 Dec;39(4):579-590. Epub 2019 Oct 3 doi: 10.1016/j.cll.2019.07.006. PMID: 31668271
Complement deficiencies and dysregulation: Pathophysiological consequences, modern analysis, and clinical management.
Schröder-Braunstein J, Kirschfink M
Mol Immunol 2019 Oct;114:299-311. Epub 2019 Aug 14 doi: 10.1016/j.molimm.2019.08.002. PMID: 31421540
Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.
Hasegawa D, Saito A, Nino N, Uemura S, Takafuji S, Yokoi T, Kozaki A, Ishida T, Kawasaki K, Yasumi T, Sakata N, Ohtsuka Y, Hirase S, Mori T, Nishimura N, Kusumoto M, Ogawa Y, Tominaga K, Nakagawa T, Kanda K, Tanaka R, Kosaka Y
J Pediatr Hematol Oncol 2018 Jan;40(1):e41-e44. doi: 10.1097/MPH.0000000000000862. PMID: 28538511
Familial hemolytic uremic syndrome with occurrence in the postpartum period.
Barbullushi M, Idrizi A, Spasovski G
Saudi J Kidney Dis Transpl 2017 Nov-Dec;28(6):1427-1431. doi: 10.4103/1319-2442.220859. PMID: 29265059

Therapy

Efficacy of GalNAc C3 siRNAs in factor H-deficient mice with C3 glomerulopathy.
Zanchi C, Locatelli M, Cerullo D, Aumiller V, Corna D, Rottoli D, Schubert S, Noris M, Tomasoni S, Remuzzi G, Zoja C, Benigni A
Mol Immunol 2024 Apr;168:10-16. Epub 2024 Feb 17 doi: 10.1016/j.molimm.2024.02.010. PMID: 38368725
Troubling Tenosynovitis: When a Serious Sign Persists.
Reed G, Dabit J, Amin S
Am J Med 2021 Sep;134(9):1107-1109. Epub 2021 Apr 1 doi: 10.1016/j.amjmed.2021.02.033. PMID: 33812863
Successful Treatment of Transplantation-associated Atypical Hemolytic Uremic Syndrome With Eculizumab.
Hasegawa D, Saito A, Nino N, Uemura S, Takafuji S, Yokoi T, Kozaki A, Ishida T, Kawasaki K, Yasumi T, Sakata N, Ohtsuka Y, Hirase S, Mori T, Nishimura N, Kusumoto M, Ogawa Y, Tominaga K, Nakagawa T, Kanda K, Tanaka R, Kosaka Y
J Pediatr Hematol Oncol 2018 Jan;40(1):e41-e44. doi: 10.1097/MPH.0000000000000862. PMID: 28538511
Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis.
Ding P, Li L, Huang T, Yang C, Xu E, Wang N, Zhang L, Gu H, Yao X, Zhou X, Hu W
Immunobiology 2016 Nov;221(11):1293-303. Epub 2016 Jun 6 doi: 10.1016/j.imbio.2016.05.014. PMID: 27316715
Mannose-binding lectin (MBL) insufficiency protects against the development of systemic inflammatory response after pediatric cardiac surgery.
Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056

Prognosis

Leiner's disease (erythroderma desquamativum): A review and approach to therapy.
Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
Complement factor H-deficient mice develop spontaneous hepatic tumors.
Laskowski J, Renner B, Pickering MC, Serkova NJ, Smith-Jones PM, Clambey ET, Nemenoff RA, Thurman JM
J Clin Invest 2020 Aug 3;130(8):4039-4054. doi: 10.1172/JCI135105. PMID: 32369457Free PMC Article
Delayed Generalized Necrotic Purpuric Rash in a C6-deficient 12-year-old Girl Treated for Group W Meningococcal Disease.
Gaschignard J, Hassani N, El Sissy C, Bonacorsi S, Dauger S, Chomton M, Taha MK, Levy M
Pediatr Infect Dis J 2018 Oct;37(10):1014-1015. doi: 10.1097/INF.0000000000001966. PMID: 29474263
Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach.
De Vriese AS, Sethi S, Van Praet J, Nath KA, Fervenza FC
J Am Soc Nephrol 2015 Dec;26(12):2917-29. Epub 2015 Jul 16 doi: 10.1681/ASN.2015020184. PMID: 26185203Free PMC Article
Meningococcal polysaccharide vaccine failure in a patient with C7 deficiency and a decreased anti-capsular antibody response.
Keiser PB, Broderick M
Hum Vaccin Immunother 2012 May;8(5):582-6. Epub 2012 May 1 doi: 10.4161/hv.19517. PMID: 22634438

Clinical prediction guides

Secondary Complement Deficiency Impairs Anti-Microbial Immunity to Klebsiella pneumoniae and Staphylococcus aureus During Severe Acute COVID-19.
Ali YM, Lynch NJ, Khatri P, Bamigbola IE, Chan ACY, Yabuki M, Demopulos GA, Heeney JL, Pai S, Baxendale H, Schwaeble WJ
Front Immunol 2022;13:841759. Epub 2022 Apr 27 doi: 10.3389/fimmu.2022.841759. PMID: 35572551Free PMC Article
Hexamerization-enhanced CD20 antibody mediates complement-dependent cytotoxicity in serum genetically deficient in C9.
Taylor RP, Lindorfer MA, Cook EM, Beurskens FJ, Schuurman J, Parren PWHI, Zent CS, VanDerMeid KR, Burack R, Mizuno M, Morgan BP
Clin Immunol 2017 Aug;181:24-28. Epub 2017 May 31 doi: 10.1016/j.clim.2017.05.016. PMID: 28578024
Complement component 6 deficiency increases susceptibility to dextran sulfate sodium-induced murine colitis.
Ding P, Li L, Huang T, Yang C, Xu E, Wang N, Zhang L, Gu H, Yao X, Zhou X, Hu W
Immunobiology 2016 Nov;221(11):1293-303. Epub 2016 Jun 6 doi: 10.1016/j.imbio.2016.05.014. PMID: 27316715
Mannose-binding lectin (MBL) insufficiency protects against the development of systemic inflammatory response after pediatric cardiac surgery.
Pągowska-Klimek I, Świerzko AS, Michalski M, Moll M, Szala-Poździej A, Sokołowska A, Krajewski WR, Cedzyński M
Immunobiology 2016 Feb;221(2):175-81. Epub 2015 Sep 8 doi: 10.1016/j.imbio.2015.09.010. PMID: 26382056
Kidney Disease Caused by Dysregulation of the Complement Alternative Pathway: An Etiologic Approach.
De Vriese AS, Sethi S, Van Praet J, Nath KA, Fervenza FC
J Am Soc Nephrol 2015 Dec;26(12):2917-29. Epub 2015 Jul 16 doi: 10.1681/ASN.2015020184. PMID: 26185203Free PMC Article

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