Complement 2 deficiency
Other namesC2 deficiency, Complement component 2 deficiency, C2D.
Structure of the C2 protein
SpecialtyHematology Edit this on Wikidata

Complement 2 deficiency is a type of complement deficiency caused by any one of several different alterations in the structure of complement component 2.

It has been associated with an increase in infections.[1][2]

It can present similarly to systemic lupus erythematosus (SLE).[3]

Signs and symptoms

C2D is linked to bacterial infections, especially encapsulated bacterial infections, as well as a risk of Systemic Lupus Erythematosus (SLE) or SLE-like disease.[4]

Complement deficiency has historically been associated with early, severe bacterial infections among children.[5] Infection susceptibility is frequently observed.[6]

C2D is linked to abnormalities in serum immunoglobulin levels, such as lower IgG2 and IgG4 levels, which could contribute to raised infection susceptibility. More than half of 40 C2D patients in a study had Streptococcus pneumoniae-related invasive infection, primarily meningitis or septicemia.[7] Haemophilus influenza type b and Neisseria meningitis are two other infections commonly seen in C2D patients.[8]

Complications

In roughly 10% of patients, a C2 deficiency is linked to an illness that resembles SLE.[9] Clinical manifestations of this SLE-like illness include fever, rash, arthritis, and glomerulonephritis.[10] With a low titer, ANA may be positive. Anti-double-stranded DNA antibodies are uncommon. Anti-Ro antibodies will be present in approximately 50% of the population.[11]

SLE associated with C2D is regarded as less severe when compared to other complement deficiencies. In SLE patients with C2D, skin and joint involvement are common, and severe persistent cutaneous and/or subacute cutaneous lupus erythematosus can occur. Renal and neuropsychiatric disease, on the other hand, is thought to be uncommon in these SLE patients.[4]

C2 deficiency has also been linked to rheumatic diseases such as membrane glomerulonephritis,[6] Henoch-Schonlein purpura,[12] and dermatomyositis.[13] Subacute cutaneous lupus,[14] polymyositis, and Hodgkin's lymphoma have also been linked.[15]

See also

References

  1. ^ Alper CA, Xu J, Cosmopoulos K, et al. (July 2003). "Immunoglobulin deficiencies and susceptibility to infection among homozygotes and heterozygotes for C2 deficiency" (PDF). J. Clin. Immunol. 23 (4): 297–305. doi:10.1023/A:1024540917593. PMID 12959222. S2CID 1198276.
  2. ^ Sherwood L. Gorbach; John G. Bartlett; Neil R. Blacklow (2004). Infectious diseases. Lippincott Williams & Wilkins. pp. 11–. ISBN 978-0-7817-3371-7. Retrieved 30 May 2010.
  3. ^ Parija (2009-01-01). Textbook of Microbiology & Immunology. Elsevier India. pp. 125–. ISBN 978-81-312-2163-1. Retrieved 13 November 2010.
  4. ^ a b Sturfelt, Gunnar; Truedsson, Lennart (2020). "Complement Component C2 Deficiency". Encyclopedia of Medical Immunology. New York, NY: Springer New York. pp. 207–213. doi:10.1007/978-1-4614-8678-7_10. ISBN 978-1-4614-8677-0. S2CID 243396344. Retrieved November 18, 2023.
  5. ^ Pettigrew, H. David; Teuber, Suzanne S.; Gershwin, M. Eric (2009). "Clinical Significance of Complement Deficiencies". Annals of the New York Academy of Sciences. Wiley. 1173 (1): 108–123. Bibcode:2009NYASA1173..108P. doi:10.1111/j.1749-6632.2009.04633.x. ISSN 0077-8923. PMID 19758139.
  6. ^ a b Figueroa, J E; Densen, P (1991). "Infectious diseases associated with complement deficiencies". Clinical Microbiology Reviews. American Society for Microbiology. 4 (3): 359–395. doi:10.1128/cmr.4.3.359. ISSN 0893-8512. PMC 358203. PMID 1889047.
  7. ^ Jönsson, Göran; Truedsson, Lennart; Sturfelt, Gunnar; Oxelius, Vivi-Anne; Braconier, Jean Henrik; Sjöholm, Anders G. (2005). "Hereditary C2 Deficiency in Sweden". Medicine. Ovid Technologies (Wolters Kluwer Health). 84 (1): 23–34. doi:10.1097/01.md.0000152371.22747.1e. ISSN 0025-7974. PMID 15643297. Retrieved November 18, 2023.
  8. ^ Ram, Sanjay; Lewis, Lisa A.; Rice, Peter A. (2010). "Infections of People with Complement Deficiencies and Patients Who Have Undergone Splenectomy". Clinical Microbiology Reviews. American Society for Microbiology. 23 (4): 740–780. doi:10.1128/cmr.00048-09. ISSN 0893-8512. PMC 2952982. PMID 20930072.
  9. ^ Walport, Mark J (2002). "Complement and systemic lupus erythematosus". Arthritis Research. Springer Science and Business Media LLC. 4 (Suppl 3): S279–S293. doi:10.1186/ar586. ISSN 1465-9905. PMC 3240161. PMID 12110148.
  10. ^ Pickering, M.C.; Botto, M.; Taylor, P.R.; Lachmann, P.J.; Walport, M.J. (2001). "Systemic Lupus Erythematosus, Complement Deficiency, and Apoptosis". Advances in Immunology. Vol. 76. Elsevier. pp. 227–324. doi:10.1016/s0065-2776(01)76021-x. ISBN 978-0-12-022476-0. ISSN 0065-2776. PMID 11079100. Retrieved November 18, 2023.
  11. ^ "UpToDate". UpToDate. Retrieved November 19, 2023.
  12. ^ Sussman, M.; Jones, J. H.; Almeida, June D.; Lachmann, P. J. (1973). "Deficiency of the second component of complement associated with anaphylactoid purpura and presence of mycoplasma in the serum". Clinical and Experimental Immunology. Oxford University Press. 14 (4): 531–539. PMC 1553813. PMID 4583776.
  13. ^ Leddy, John P.; Griggs, Robert C.; Klemperer, Martin R.; Frank, Michael M. (1975). "Hereditary complement (C2) deficiency with dermatomyositis". The American Journal of Medicine. Elsevier BV. 58 (1): 83–91. doi:10.1016/0002-9343(75)90537-9. ISSN 0002-9343. PMID 1090155. Retrieved November 18, 2023.
  14. ^ JP, Callen; SJ, Hodge; KB, Kulick; G, Stelzer; JJ, Buchino (1987). "Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency". Archives of Dermatology. Arch Dermatol. 123 (1): 66–70. doi:10.1001/archderm.1987.01660250072021. ISSN 0003-987X. PMID 3467658. Retrieved November 18, 2023.
  15. ^ Cole, F. Sessions; Whitehead, Alexander S.; Auerbach, Harvey S.; Lint, Thomas; Zeitz, Howard J.; Kilbridge, Peter; Colten, Harvey R. (July 4, 1985). "The Molecular Basis for Genetic Deficiency of the Second Component of Human Complement". New England Journal of Medicine. Massachusetts Medical Society. 313 (1): 11–16. doi:10.1056/nejm198507043130103. ISSN 0028-4793. PMID 2582254. Retrieved November 18, 2023.

Further reading

External links

Classification
Lymphoid and complement disorders causing immunodeficiency
Category