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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
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Clin Infect Dis 2014 Jul 15;59(2):244-51. Epub 2014 Apr 23 doi: 10.1093/cid/ciu274. PMID: 24759830Free PMC Article

Recent clinical studies

Etiology

Truedsson L
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Sullivan KE
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Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348

Diagnosis

McMurray JC, Schornack BJ, Weskamp AL, Park KJ, Pollock JD, Day WG, Brockshus AT, Beakes DE, Schwartz DJ, Mikita CP, Pittman LM
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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
Sim E
Complement Inflamm 1989;6(2):119-26. doi: 10.1159/000463084. PMID: 2524348
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Therapy

Kaplan AP
Chem Immunol Allergy 2014;100:140-7. Epub 2014 May 22 doi: 10.1159/000358619. PMID: 24925394
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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
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Prognosis

Oprea Y, Antohi DR, Vague M, Delbourgo Patton C, Wu B, Ortega-Loayza AG
Am J Clin Dermatol 2024 Sep;25(5):701-716. Epub 2024 Jul 1 doi: 10.1007/s40257-024-00875-y. PMID: 38951460
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
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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
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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
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Recent systematic reviews

Oprea Y, Antohi DR, Vague M, Delbourgo Patton C, Wu B, Ortega-Loayza AG
Am J Clin Dermatol 2024 Sep;25(5):701-716. Epub 2024 Jul 1 doi: 10.1007/s40257-024-00875-y. PMID: 38951460

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