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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

Isolated angioedema: A review of classification and update on management.
Kesh S, Bernstein JA
Ann Allergy Asthma Immunol 2022 Dec;129(6):692-702. Epub 2022 Aug 19 doi: 10.1016/j.anai.2022.08.003. PMID: 35988876
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.
Caballero T
J Investig Allergol Clin Immunol 2021 Feb;31(1):1-16. doi: 10.18176/jiaci.0653. PMID: 33602658

Recent clinical studies

Etiology

Clinical implications of C6 complement component deficiency.
Rauscher CK, Fajt ML, Bryk J, Petrov AA
Allergy Asthma Proc 2020 Sep 1;41(5):386-388. doi: 10.2500/aap.2020.41.200039. PMID: 32867893
Clinical and Genetic Spectrum of a Large Cohort With Total and Sub-total Complement Deficiencies.
El Sissy C, Rosain J, Vieira-Martins P, Bordereau P, Gruber A, Devriese M, de Pontual L, Taha MK, Fieschi C, Picard C, Frémeaux-Bacchi V
Front Immunol 2019;10:1936. Epub 2019 Aug 8 doi: 10.3389/fimmu.2019.01936. PMID: 31440263Free PMC Article
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
The role of complement dysregulation in AMD mouse models.
Ding JD, Kelly U, Groelle M, Christenbury JG, Zhang W, Bowes Rickman C
Adv Exp Med Biol 2014;801:213-9. doi: 10.1007/978-1-4614-3209-8_28. PMID: 24664701
Complement factor H related proteins (CFHRs).
Skerka C, Chen Q, Fremeaux-Bacchi V, Roumenina LT
Mol Immunol 2013 Dec 15;56(3):170-80. Epub 2013 Jul 3 doi: 10.1016/j.molimm.2013.06.001. PMID: 23830046

Diagnosis

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
Genetic and Protein Structural Evaluation of Atypical Hemolytic Uremic Syndrome and C3 Glomerulopathy.
Perkins SJ
Adv Chronic Kidney Dis 2020 Mar;27(2):120-127.e4. doi: 10.1053/j.ackd.2020.03.002. PMID: 32553244
Newborn Screening for Presymptomatic Diagnosis of Complement and Phagocyte Deficiencies.
Dezfouli M, Bergström S, Skattum L, Abolhassani H, Neiman M, Torabi-Rahvar M, Franco Jarava C, Martin-Nalda A, Ferrer Balaguer JM, Slade CA, Roos A, Fernandez Pereira LM, López-Trascasa M, Gonzalez-Granado LI, Allende-Martinez LM, Mizuno Y, Yoshida Y, Friman V, Lundgren Å, Aghamohammadi A, Rezaei N, Hernández-Gonzalez M, von Döbeln U, Truedsson L, Hara T, Nonoyama S, Schwenk JM, Nilsson P, Hammarström L
Front Immunol 2020;11:455. Epub 2020 Mar 17 doi: 10.3389/fimmu.2020.00455. PMID: 32256498Free PMC Article
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

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
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
Bacterial infections in a pediatric cohort of primary and acquired complement deficiencies.
Al-Shaikhly T, Hayward K, Basiaga ML, Allenspach EJ
Pediatr Rheumatol Online J 2020 Sep 24;18(1):74. doi: 10.1186/s12969-020-00467-0. PMID: 32972440Free PMC Article
Multi-component meningococcal serogroup B (MenB)-4C vaccine induces effective opsonophagocytic killing in children with a complement deficiency.
van den Broek B, van Els CACM, Kuipers B, van Aerde K, Henriet SS, de Groot R, de Jonge MI, Langereis JD, van der Flier M
Clin Exp Immunol 2019 Dec;198(3):381-389. Epub 2019 Oct 1 doi: 10.1111/cei.13368. PMID: 31487400Free PMC Article
Dysregulation of adaptive immune responses in complement C3-deficient patients.
Pekkarinen PT, Heikkilä N, Kisand K, Peterson P, Botto M, Daha MR, Drouet C, Isaac L, Helminen M, Haahtela T, Meri S, Jarva H, Arstila TP
Eur J Immunol 2015 Mar;45(3):915-21. Epub 2015 Jan 19 doi: 10.1002/eji.201444948. PMID: 25446578

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
Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection.
Ramlall V, Thangaraj PM, Meydan C, Foox J, Butler D, Kim J, May B, De Freitas JK, Glicksberg BS, Mason CE, Tatonetti NP, Shapira SD
Nat Med 2020 Oct;26(10):1609-1615. Epub 2020 Aug 3 doi: 10.1038/s41591-020-1021-2. PMID: 32747830Free PMC Article
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
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.
Jlajla H, Dehman F, Jallouli M, Khedher R, Ayadi I, Zerzeri Y, Laadhar L, Sfar I, Mahfoudh A, Gorgi Y, Cheour E, Zouaghi K, Gargah T, Kallel Sellami M
Nephrology (Carlton) 2019 Mar;24(3):357-364. doi: 10.1111/nep.13217. PMID: 29292855
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

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
Bacterial infections in a pediatric cohort of primary and acquired complement deficiencies.
Al-Shaikhly T, Hayward K, Basiaga ML, Allenspach EJ
Pediatr Rheumatol Online J 2020 Sep 24;18(1):74. doi: 10.1186/s12969-020-00467-0. PMID: 32972440Free PMC Article
Immune complement and coagulation dysfunction in adverse outcomes of SARS-CoV-2 infection.
Ramlall V, Thangaraj PM, Meydan C, Foox J, Butler D, Kim J, May B, De Freitas JK, Glicksberg BS, Mason CE, Tatonetti NP, Shapira SD
Nat Med 2020 Oct;26(10):1609-1615. Epub 2020 Aug 3 doi: 10.1038/s41591-020-1021-2. PMID: 32747830Free PMC Article
Molecular basis of complement factor I deficiency in Tunisian atypical haemolytic and uraemic syndrome patients.
Jlajla H, Dehman F, Jallouli M, Khedher R, Ayadi I, Zerzeri Y, Laadhar L, Sfar I, Mahfoudh A, Gorgi Y, Cheour E, Zouaghi K, Gargah T, Kallel Sellami M
Nephrology (Carlton) 2019 Mar;24(3):357-364. doi: 10.1111/nep.13217. PMID: 29292855
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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