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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

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
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
Caballero T
J Investig Allergol Clin Immunol 2021 Feb;31(1):1-16. doi: 10.18176/jiaci.0653. PMID: 33602658

Recent clinical studies

Etiology

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
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
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
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
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

Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
Perkins SJ
Adv Chronic Kidney Dis 2020 Mar;27(2):120-127.e4. doi: 10.1053/j.ackd.2020.03.002. PMID: 32553244
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
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
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

Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
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
Gulleroglu K, Baskin E, Ozdemir H, Moray G, Haberal M
Exp Clin Transplant 2020 Jan;18(Suppl 1):82-83. doi: 10.6002/ect.TOND-TDTD2019.P28. PMID: 32008503
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
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

Sanghvi SY, Schwartz RA
Dermatol Ther 2021 Jan;34(1):e14510. Epub 2020 Nov 17 doi: 10.1111/dth.14510. PMID: 33166012
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
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
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
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

Lundtoft C, Sjöwall C, Rantapää-Dahlqvist S, Bengtsson AA, Jönsen A, Pucholt P, Wu YL, Lundström E, Eloranta ML, Gunnarsson I, Baecklund E, Jonsson R, Hammenfors D, Forsblad-d'Elia H, Eriksson P, Mandl T, Bucher S, Norheim KB, Auglaend Johnsen SJ, Omdal R, Kvarnström M, Wahren-Herlenius M, Truedsson L, Nilsson B, Kozyrev SV, Bianchi M, Lindblad-Toh K; DISSECT consortium, the ImmunoArray consortium, Yu CY, Nordmark G, Sandling JK, Svenungsson E, Leonard D, Rönnblom L
Arthritis Rheumatol 2022 Nov;74(11):1842-1850. Epub 2022 Oct 7 doi: 10.1002/art.42270. PMID: 35729719Free PMC Article
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
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
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
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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