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Complement component 2 deficiency(C2D)

MedGen UID:
461625
Concept ID:
C3150275
Disease or Syndrome
Synonyms: C2 deficiency; C2D; Complement Component C2 Deficiency
 
Gene (location): C2 (6p21.33)
 
Monarch Initiative: MONDO:0009006
OMIM®: 217000

Definition

The complement system is a set of plasma proteins that serves as an effector of several biologic functions associated with inflammation, immunoregulation, and cytotoxicity. Deficiency of complement component-2 (C2D) is the most common defect of the complement system in persons of western European descent. In type I C2 deficiency, no C2 protein is translated; in type II, there is a selective block in C2 secretion. More than half of individuals with homozygous C2 deficiency have rheumatologic disorders such as systemic lupus erythematosus, Henoch-Schonlein purpura, or polymyositis. Other individuals experience recurrent pyogenic infections, and some C2-deficient individuals are asymptomatic (summary by Johnson et al., 1992, Wetsel et al., 1996). [from OMIM]

Additional description

From MedlinePlus Genetics
Complement component 2 deficiency is a disorder that causes the immune system to malfunction, resulting in a form of immunodeficiency. Immunodeficiencies are conditions in which the immune system is not able to protect the body effectively from foreign invaders such as bacteria and viruses. People with complement component 2 deficiency have a significantly increased risk of recurrent bacterial infections, specifically of the lungs (pneumonia), the membrane covering the brain and spinal cord (meningitis), and the blood (sepsis), which may be life-threatening. These infections most commonly occur in infancy and childhood and become less frequent in adolescence and adulthood.

Complement component 2 deficiency is also associated with an increased risk of developing autoimmune disorders such as systemic lupus erythematosus (SLE) or vasculitis. Autoimmune disorders occur when the immune system malfunctions and attacks the body's tissues and organs. Between 10 and 20 percent of individuals with complement component 2 deficiency develop SLE. Females with complement component 2 deficiency are more likely to have SLE than affected males, but this is also true of SLE in the general population.

The severity of complement component 2 deficiency varies widely. While some affected individuals experience recurrent infections and other immune system difficulties, others do not have any health problems related to the disorder.  https://medlineplus.gov/genetics/condition/complement-component-2-deficiency

Clinical features

From HPO
Systemic lupus erythematosus
MedGen UID:
6146
Concept ID:
C0024141
Disease or Syndrome
Systemic lupus erythematosus (SLE) is a complex autoimmune disease characterized by production of autoantibodies against nuclear, cytoplasmic, and cell surface molecules that transcend organ-specific boundaries. Tissue deposition of antibodies or immune complexes induces inflammation and subsequent injury of multiple organs and finally results in clinical manifestations of SLE, including glomerulonephritis, dermatitis, thrombosis, vasculitis, seizures, and arthritis. Evidence strongly suggests the involvement of genetic components in SLE susceptibility (summary by Oishi et al., 2008). Genetic Heterogeneity of Systemic Lupus Erythematosus An autosomal recessive form of systemic lupus erythematosus (SLEB16; 614420) is caused by mutation in the DNASE1L3 gene (602244) on chromosome 3p14.3. An X-linked dominant form of SLE (SLEB17; 301080) is caused by heterozygous mutation in the TLR7 gene (300365) on chromosome Xp22. See MAPPING and MOLECULAR GENETICS sections for a discussion of genetic heterogeneity of susceptibility to SLE.
Purpura
MedGen UID:
19584
Concept ID:
C0034150
Disease or Syndrome
Purpura (from Latin

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVComplement component 2 deficiency

Professional guidelines

PubMed

Turley AJ, Gathmann B, Bangs C, Bradbury M, Seneviratne S, Gonzalez-Granado LI, Hackett S, Kutukculer N, Alachkar H, Hambleton S, Ritterbusch H, Kralickova P, Marodi L, Seidel MG, Dueckers G, Roesler J, Huissoon A, Baxendale H, Litzman J, Arkwright PD
J Clin Immunol 2015 Feb;35(2):199-205. Epub 2015 Feb 8 doi: 10.1007/s10875-015-0137-5. PMID: 25663093
Middleton O, Cosimo E, Dobbin E, McCaig AM, Clarke C, Brant AM, Leach MT, Michie AM, Wheadon H
Leukemia 2015 Jan;29(1):107-14. Epub 2014 May 2 doi: 10.1038/leu.2014.146. PMID: 24787488
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

Truedsson L
Mol Immunol 2015 Nov;68(1):14-9. Epub 2015 May 30 doi: 10.1016/j.molimm.2015.05.007. PMID: 26038300
Zipfel PF, Lauer N, Skerka C
Adv Exp Med Biol 2010;703:9-24. doi: 10.1007/978-1-4419-5635-4_2. PMID: 20711704
Sjöholm AG, Jönsson G, Braconier JH, Sturfelt G, Truedsson L
Mol Immunol 2006 Jan;43(1-2):78-85. doi: 10.1016/j.molimm.2005.06.025. PMID: 16026838
Sullivan KE
Curr Opin Pediatr 1998 Dec;10(6):600-6. doi: 10.1097/00008480-199810060-00011. PMID: 9848020
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Diagnosis

Sjöholm AG, Jönsson G, Braconier JH, Sturfelt G, Truedsson L
Mol Immunol 2006 Jan;43(1-2):78-85. doi: 10.1016/j.molimm.2005.06.025. PMID: 16026838
Morizono H, Caldovic L, Shi D, Tuchman M
Mol Genet Metab 2004 Apr;81 Suppl 1(Suppl 1):S4-11. doi: 10.1016/j.ymgme.2003.10.017. PMID: 15050968Free PMC Article
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348
Dalmasso AP
Crit Rev Clin Lab Sci 1986;24(2):123-83. doi: 10.3109/10408368609110272. PMID: 2971510
Farnam J, Grant JA
Dermatol Clin 1985 Jan;3(1):85-95. PMID: 2868818

Therapy

Kaplan AP
Chem Immunol Allergy 2014;100:140-7. Epub 2014 May 22 doi: 10.1159/000358619. PMID: 24925394
Huda R, Tüzün E, Christadoss P
Rev Neurosci 2014;25(4):575-83. doi: 10.1515/revneuro-2014-0021. PMID: 24731953
Barilla-LaBarca ML, Atkinson JP
Curr Opin Rheumatol 2003 Jan;15(1):55-60. doi: 10.1097/00002281-200301000-00010. PMID: 12496511
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348
Farnam J, Grant JA
Dermatol Clin 1985 Jan;3(1):85-95. PMID: 2868818

Prognosis

Blazina Š, Debeljak M, Košnik M, Simčič S, Stopinšek S, Markelj G, Toplak N, Kopač P, Zakotnik B, Pokorn M, Avčin T
Front Immunol 2018;9:500. Epub 2018 Mar 21 doi: 10.3389/fimmu.2018.00500. PMID: 29619023Free PMC Article
Bhattad S, Rawat A, Gupta A, Suri D, Garg R, de Boer M, Kuijpers TW, Singh S
J Clin Immunol 2015 Nov;35(8):777-85. Epub 2015 Nov 13 doi: 10.1007/s10875-015-0212-y. PMID: 26563161
Lipsker DM, Schreckenberg-Gilliot C, Uring-Lambert B, Meyer A, Hartmann D, Grosshans EM, Hauptmann G
Arch Dermatol 2000 Dec;136(12):1508-14. doi: 10.1001/archderm.136.12.1508. PMID: 11115162
Dalmasso AP
Crit Rev Clin Lab Sci 1986;24(2):123-83. doi: 10.3109/10408368609110272. PMID: 2971510
Nusinow SR, Zuraw BL, Curd JG
Med Clin North Am 1985 May;69(3):487-504. doi: 10.1016/s0025-7125(16)31028-8. PMID: 3892188

Clinical prediction guides

Meuleman MS, Duval A, Grunenwald A, Rezola Artero M, Dermani M, Peliconi J, Revel M, Vieira-Martins P, Courbebaisse M, Parfait B, Lebeaux D, Friedlander G, Roumenina L, Chauvet S, Frémeaux-Bacchi V, Dragon-Durey MA
Clin Chim Acta 2024 Feb 1;554:117750. Epub 2024 Jan 2 doi: 10.1016/j.cca.2023.117750. PMID: 38176523
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
Blazina Š, Debeljak M, Košnik M, Simčič S, Stopinšek S, Markelj G, Toplak N, Kopač P, Zakotnik B, Pokorn M, Avčin T
Front Immunol 2018;9:500. Epub 2018 Mar 21 doi: 10.3389/fimmu.2018.00500. PMID: 29619023Free PMC Article
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
Kölble K, Reid KB
Int Rev Immunol 1993;10(1):17-36. doi: 10.3109/08830189309051169. PMID: 8340675

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