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Immunodeficiency due to a classical component pathway complement deficiency

MedGen UID:
585054
Concept ID:
C0398750
Disease or Syndrome
Synonyms: Classical complement pathway abnormality; immunodeficiency due to a C1, C4, or C2 component complement deficiency; immunodeficiency due to a classical component pathway complement deficiency; Immunodeficiency due to an early component of complement deficiency; immunodeficiency due to an early component of complement deficiency; Immunodeficiency due to C1, C4, or C2 component complement deficiency; immunodeficiency due to C1, C4, or C2 component complement deficiency
SNOMED CT: Classical complement pathway abnormality (234593008)
 
Monarch Initiative: MONDO:0015699
Orphanet: ORPHA169147

Definition

Immunodeficiency due to a classical component pathway complement deficiency is a primary immunodeficiency due to a deficiency in either complement components C1q, C1r, C1s, C2 or C4 characterized by increased susceptibility to bacterial infections, particularly with encapsulated bacteria, and increased risk for autoimmune disease. Most commonly, these include systemic lupus erythematosus (SLE), SLE-like disease, Henoch-Schonlein purpura, polymyositis and arthralgia. Disease severity is variable and dependent on the complement affected. [from ORDO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVImmunodeficiency due to a classical component pathway complement deficiency

Professional guidelines

PubMed

Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S
J Clin Immunol 2020 May;40(4):576-591. Epub 2020 Feb 17 doi: 10.1007/s10875-020-00754-1. PMID: 32064578Free 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
Martini PG, Cook LC, Alderucci S, Norton AW, Lundberg DM, Fish SM, Langsetmo K, Jönsson G, Lood C, Gullstrand B, Zaleski KJ, Savioli N, Lottherand J, Bedard C, Gill J, Concino MF, Heartlein MW, Truedsson L, Powell JL, Tzianabos AO
BMC Immunol 2010 Aug 20;11:43. doi: 10.1186/1471-2172-11-43. PMID: 20727163Free PMC Article

Recent clinical studies

Etiology

Balduit A, Bianco AM, Mangogna A, Zicari AM, Leonardi L, Cinicola BL, Capponi M, Tommasini A, Agostinis C, d'Adamo AP, Bulla R
Front Immunol 2023;14:1192690. Epub 2023 May 25 doi: 10.3389/fimmu.2023.1192690. PMID: 37304269Free PMC Article
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
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
Arason GJ, Jorgensen GH, Ludviksson BR
Scand J Immunol 2010 May;71(5):317-28. doi: 10.1111/j.1365-3083.2010.02386.x. PMID: 20500682

Diagnosis

McMurray JC, Schornack BJ, Weskamp AL, Park KJ, Pollock JD, Day WG, Brockshus AT, Beakes DE, Schwartz DJ, Mikita CP, Pittman LM
Allergy Asthma Proc 2024 Sep 1;45(5):305-309. doi: 10.2500/aap.2024.45.240050. PMID: 39294906Free PMC Article
Leonardi L, La Torre F, Soresina A, Federici S, Cancrini C, Castagnoli R, Cinicola BL, Corrente S, Giardino G, Lougaris V, Volpi S, Marseglia GL, Cardinale F; Immunology Task Force of the Italian Society of Pediatric Allergy and Immunology (SIAIP)
Pediatr Allergy Immunol 2022 Jan;33 Suppl 27(Suppl 27):73-76. doi: 10.1111/pai.13635. PMID: 35080299Free PMC Article
Brodszki N, Frazer-Abel A, Grumach AS, Kirschfink M, Litzman J, Perez E, Seppänen MRJ, Sullivan KE, Jolles S
J Clin Immunol 2020 May;40(4):576-591. Epub 2020 Feb 17 doi: 10.1007/s10875-020-00754-1. PMID: 32064578Free 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

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
Dellepiane RM, Dell'Era L, Pavesi P, Macor P, Giordano M, De Maso L, Pietrogrande MC, Cugno M
Orphanet J Rare Dis 2016 May 17;11(1):64. doi: 10.1186/s13023-016-0448-5. PMID: 27183977Free PMC Article
Martini PG, Cook LC, Alderucci S, Norton AW, Lundberg DM, Fish SM, Langsetmo K, Jönsson G, Lood C, Gullstrand B, Zaleski KJ, Savioli N, Lottherand J, Bedard C, Gill J, Concino MF, Heartlein MW, Truedsson L, Powell JL, Tzianabos AO
BMC Immunol 2010 Aug 20;11:43. doi: 10.1186/1471-2172-11-43. PMID: 20727163Free PMC Article
Barilla-LaBarca ML, Atkinson JP
Curr Opin Rheumatol 2003 Jan;15(1):55-60. doi: 10.1097/00002281-200301000-00010. PMID: 12496511
Leddy JP, Griggs RC, Klemperer MR, Frank MM
Am J Med 1975 Jan;58(1):83-91. doi: 10.1016/0002-9343(75)90537-9. PMID: 1090155

Prognosis

Errante PR, Perazzio SF, Frazão JB, da Silva NP, Andrade LE
Rev Bras Reumatol Engl Ed 2016 Jan-Feb;56(1):58-68. Epub 2015 Sep 1 doi: 10.1016/j.rbre.2015.07.006. PMID: 27267335

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
Laich A, Patel H, Zarantonello A, Sim RB, Inal JM
Immunobiology 2022 May;227(3):152225. Epub 2022 May 5 doi: 10.1016/j.imbio.2022.152225. PMID: 35567980
Jesus AA, Liphaus BL, Silva CA, Bando SY, Andrade LE, Coutinho A, Carneiro-Sampaio M
Lupus 2011 Oct;20(12):1275-84. Epub 2011 Aug 3 doi: 10.1177/0961203311411598. PMID: 21813590
Arason GJ, Jorgensen GH, Ludviksson BR
Scand J Immunol 2010 May;71(5):317-28. doi: 10.1111/j.1365-3083.2010.02386.x. PMID: 20500682
Carneiro-Sampaio M, Liphaus BL, Jesus AA, Silva CA, Oliveira JB, Kiss MH
J Clin Immunol 2008 May;28 Suppl 1:S34-41. Epub 2008 Apr 11 doi: 10.1007/s10875-008-9187-2. PMID: 18404362

Recent systematic reviews

Balduit A, Bianco AM, Mangogna A, Zicari AM, Leonardi L, Cinicola BL, Capponi M, Tommasini A, Agostinis C, d'Adamo AP, Bulla R
Front Immunol 2023;14:1192690. Epub 2023 May 25 doi: 10.3389/fimmu.2023.1192690. PMID: 37304269Free PMC Article

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