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{{Infobox medical condition (new)
{{Infobox medical condition (new)
| name = Complement 2 deficiency
| name = Complement 2 deficiency
| synonyms =
|synonyms = C2 deficiency, Complement component 2 deficiency, C2D.
| image =
|image = Protein C2 PDB 2i6q.png
| caption =
|caption = Structure of the C2 protein
| pronounce =
| pronounce =
| field =
| field =
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It can present similarly to [[systemic lupus erythematosus]] (SLE).<ref name="Parija">{{cite book|author=Parija|title=Textbook of Microbiology & Immunology|url=https://books.google.com/books?id=HcgGLfxDJSQC&pg=PA125|accessdate=13 November 2010|publisher=Elsevier India|isbn=978-81-312-2163-1|pages=125–|date=2009-01-01}}</ref>
It can present similarly to [[systemic lupus erythematosus]] (SLE).<ref name="Parija">{{cite book|author=Parija|title=Textbook of Microbiology & Immunology|url=https://books.google.com/books?id=HcgGLfxDJSQC&pg=PA125|accessdate=13 November 2010|publisher=Elsevier India|isbn=978-81-312-2163-1|pages=125–|date=2009-01-01}}</ref>


== Signs and symptoms ==
⚫
==References==
C2D is linked to [[bacterial infections]], especially [[Encapsulated bacteria|encapsulated]] bacterial infections, as well as a risk of [[Systemic Lupus Erythematosus]] (SLE) or SLE-like disease.<ref name="Sturfelt Truedsson 2020 pp. 207–213">{{cite book | last=Sturfelt | first=Gunnar | last2=Truedsson | first2=Lennart | title=Encyclopedia of Medical Immunology | chapter=Complement Component C2 Deficiency | publisher=Springer New York | publication-place=New York, NY | year=2020 | isbn=978-1-4614-8677-0 | doi=10.1007/978-1-4614-8678-7_10 | page=207–213|url=https://link.springer.com/referenceworkentry/10.1007/978-1-4614-8678-7_10|access-date=November 18, 2023}}</ref>

Complement deficiency has historically been associated with early, severe bacterial infections among children.<ref name="Pettigrew Teuber Gershwin 2009 pp. 108–123">{{cite journal | last=Pettigrew | first=H. David | last2=Teuber | first2=Suzanne S. | last3=Gershwin | first3=M. Eric | title=Clinical Significance of Complement Deficiencies | journal=Annals of the New York Academy of Sciences | publisher=Wiley | volume=1173 | issue=1 | year=2009 | issn=0077-8923 | doi=10.1111/j.1749-6632.2009.04633.x | pages=108–123|url=https://nyaspubs.onlinelibrary.wiley.com/doi/full/10.1111/j.1749-6632.2009.04633.x|access-date=November 18, 2023}}</ref> Infection susceptibility is frequently observed.<ref name="Figueroa Densen 1991 pp. 359–395">{{cite journal | last=Figueroa | first=J E | last2=Densen | first2=P | title=Infectious diseases associated with complement deficiencies | journal=Clinical Microbiology Reviews | publisher=American Society for Microbiology | volume=4 | issue=3 | year=1991 | issn=0893-8512 | doi=10.1128/cmr.4.3.359 | pages=359–395|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC358203/|access-date=November 18, 2023|doi-access=free}}</ref>

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]].<ref name="Jönsson Truedsson Sturfelt Oxelius 2005 pp. 23–34">{{cite journal | last=Jönsson | first=Göran | last2=Truedsson | first2=Lennart | last3=Sturfelt | first3=Gunnar | last4=Oxelius | first4=Vivi-Anne | last5=Braconier | first5=Jean Henrik | last6=Sjöholm | first6=Anders G. | title=Hereditary C2 Deficiency in Sweden | journal=Medicine | publisher=Ovid Technologies (Wolters Kluwer Health) | volume=84 | issue=1 | year=2005 | issn=0025-7974 | doi=10.1097/01.md.0000152371.22747.1e | pages=23–34|url=https://journals.lww.com/md-journal/fulltext/2005/01000/hereditary_c2_deficiency_in_sweden__frequent.3.aspx|access-date=November 18, 2023|doi-access=free}}</ref> [[Haemophilus influenzae type B|Haemophilus influenza type b]] and [[Neisseria meningitidis|Neisseria meningitis]] are two other infections commonly seen in C2D patients.<ref name="Ram Lewis Rice 2010 pp. 740–780">{{cite journal | last=Ram | first=Sanjay | last2=Lewis | first2=Lisa A. | last3=Rice | first3=Peter A. | title=Infections of People with Complement Deficiencies and Patients Who Have Undergone Splenectomy | journal=Clinical Microbiology Reviews | publisher=American Society for Microbiology | volume=23 | issue=4 | year=2010 | issn=0893-8512 | doi=10.1128/cmr.00048-09 | pages=740–780|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2952982/|access-date=November 18, 2023|doi-access=free}}</ref>

=== Complications ===
In roughly 10% of patients, a C2 deficiency is linked to an illness that resembles [[Lupus|SLE]].<ref name="Walport 2002 p. S279">{{cite journal | last=Walport | first=Mark J | title= Complement and systemic lupus erythematosus| journal=Arthritis Research | publisher=Springer Science and Business Media LLC | volume=4 | issue=Suppl 3 | year=2002 | issn=1465-9905 | doi=10.1186/ar586 | page=S279|url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3240161/|access-date=November 18, 2023|doi-access=free}}</ref> Clinical manifestations of this SLE-like illness include [[fever]], [[rash]], [[arthritis]], and [[glomerulonephritis]].<ref name="Pickering Botto Taylor Lachmann 2001 pp. 227–324">{{cite book | last=Pickering | first=M.C. | last2=Botto | first2=M. | last3=Taylor | first3=P.R. | last4=Lachmann | first4=P.J. | last5=Walport | first5=M.J. | title=Advances in Immunology | chapter=Systemic Lupus Erythematosus, Complement Deficiency, and Apoptosis | publisher=Elsevier | year=2001 | isbn=978-0-12-022476-0 | issn=0065-2776 | doi=10.1016/s0065-2776(01)76021-x | page=227–324|url=https://pubmed.ncbi.nlm.nih.gov/11079100/|access-date=November 18, 2023}}</ref> With a low titer, [[Antinuclear antibody|ANA]] may be positive. [[Anti-dsDNA antibodies|Anti-double-stranded DNA antibodies]] are uncommon. [[Anti-Ro antibodies]] will be present in approximately 50% of the population.<ref name="UpToDate x292">{{cite web | title=UpToDate | website=UpToDate |url=https://www.uptodate.com/contents/inherited-disorders-of-the-complement-system | access-date=November 19, 2023}}</ref>

[[Lupus|SLE]] associated with C2D is regarded as less severe when compared to other [[Complement deficiency|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.<ref name="Sturfelt Truedsson 2020 pp. 207–213"/>

C2 deficiency has also been linked to [[rheumatic diseases]] such as [[Membranous glomerulonephritis|membrane glomerulonephritis]]<ref name="Figueroa Densen 1991 pp. 359–395"/>, [[Henoch–Schönlein purpura|Henoch-Schonlein purpura]],<ref name="Sussman Jones Almeida Lachmann p. ">{{cite journal | last=Sussman | first=M. | last2=Jones | first2=J. H. | last3=Almeida | first3=June D. | last4=Lachmann | first4=P. J. | title=Deficiency of the second component of complement associated with anaphylactoid purpura and presence of mycoplasma in the serum | journal=Clinical and Experimental Immunology | publisher=Oxford University Press | volume=14 | issue=4 | pmid=4583776 |url=https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1553813/ | access-date=November 19, 2023}}</ref> and [[dermatomyositis]].<ref name="Leddy Griggs Klemperer Frank 1975 pp. 83–91">{{cite journal | last=Leddy | first=John P. | last2=Griggs | first2=Robert C. | last3=Klemperer | first3=Martin R. | last4=Frank | first4=Michael M. | title=Hereditary complement (C2) deficiency with dermatomyositis | journal=The American Journal of Medicine | publisher=Elsevier BV | volume=58 | issue=1 | year=1975 | issn=0002-9343 | doi=10.1016/0002-9343(75)90537-9 | pages=83–91|url=https://pubmed.ncbi.nlm.nih.gov/1090155/|access-date=November 18, 2023}}</ref> Subacute [[Cutaneous lupus erythematosus|cutaneous lupus]],<ref name="JP SJ KB G p. ">{{cite journal | last=JP | first=Callen | last2=SJ | first2=Hodge | last3=KB | first3=Kulick | last4=G | first4=Stelzer | last5=JJ | first5=Buchino | title=Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency | journal=Archives of dermatology | publisher=Arch Dermatol | volume=123 | issue=1 | issn=0003-987X | pmid=3467658 |url=https://pubmed.ncbi.nlm.nih.gov/3467658/ | access-date=November 19, 2023 |url=https://pubmed.ncbi.nlm.nih.gov/3467658/|access-date=November 18, 2023}}</ref> [[polymyositis]], and [[Hodgkin lymphoma|Hodgkin's lymphoma]] have also been linked.<ref name="Cole Whitehead Auerbach Lint 1985 pp. 11–16">{{cite journal | last=Cole | first=F. Sessions | last2=Whitehead | first2=Alexander S. | last3=Auerbach | first3=Harvey S. | last4=Lint | first4=Thomas | last5=Zeitz | first5=Howard J. | last6=Kilbridge | first6=Peter | last7=Colten | first7=Harvey R. | title=The Molecular Basis for Genetic Deficiency of the Second Component of Human Complement | journal=New England Journal of Medicine | publisher=Massachusetts Medical Society | volume=313 | issue=1 | date=July 4, 1985 | issn=0028-4793 | doi=10.1056/nejm198507043130103 | pages=11–16|url=https://www.nejm.org/doi/full/10.1056/NEJM198507043130103|access-date=November 18, 2023}}</ref>

== See also ==
* [[Systemic Lupus Erythematosus]]
* [[Complement deficiency]]

⚫
== References ==
{{reflist}}
{{reflist}}

== Further reading ==
* {{cite journal | last=Sjöholm | first=A.G. | last2=Jönsson | first2=G. | last3=Braconier | first3=J.H. | last4=Sturfelt | first4=G. | last5=Truedsson | first5=L. | title=Complement deficiency and disease: An update | journal=Molecular Immunology | publisher=Elsevier BV | volume=43 | issue=1-2 | year=2006 | issn=0161-5890 | doi=10.1016/j.molimm.2005.06.025 | pages=78–85|ref=none|url=https://www.sciencedirect.com/science/article/abs/pii/S0161589005002026}}

== External links ==
== External links ==
{{Medical resources
{{Medical resources
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| SNOMED CT = 234599007
| SNOMED CT = 234599007
}}
}}

{{Lymphoid and complement immunodeficiency}}
{{Lymphoid and complement immunodeficiency}}


[[Category:Complement deficiency]]
[[Category:Complement deficiency]]


{{blood-disease-stub}}

Revision as of 00:51, 19 November 2023

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.
  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. p. 207–213. doi:10.1007/978-1-4614-8678-7_10. ISBN 978-1-4614-8677-0. 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. 1173 (1). Wiley: 108–123. doi:10.1111/j.1749-6632.2009.04633.x. ISSN 0077-8923. Retrieved November 18, 2023.
  6. ^ a b Figueroa, J E; Densen, P (1991). "Infectious diseases associated with complement deficiencies". Clinical Microbiology Reviews. 4 (3). American Society for Microbiology: 359–395. doi:10.1128/cmr.4.3.359. ISSN 0893-8512. Retrieved November 18, 2023.
  7. ^ Jönsson, Göran; Truedsson, Lennart; Sturfelt, Gunnar; Oxelius, Vivi-Anne; Braconier, Jean Henrik; Sjöholm, Anders G. (2005). "Hereditary C2 Deficiency in Sweden". Medicine. 84 (1). Ovid Technologies (Wolters Kluwer Health): 23–34. doi:10.1097/01.md.0000152371.22747.1e. ISSN 0025-7974. 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. 23 (4). American Society for Microbiology: 740–780. doi:10.1128/cmr.00048-09. ISSN 0893-8512. Retrieved November 18, 2023.
  9. ^ Walport, Mark J (2002). "Complement and systemic lupus erythematosus". Arthritis Research. 4 (Suppl 3). Springer Science and Business Media LLC: S279. doi:10.1186/ar586. ISSN 1465-9905. Retrieved November 18, 2023.
  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. Elsevier. p. 227–324. doi:10.1016/s0065-2776(01)76021-x. ISBN 978-0-12-022476-0. ISSN 0065-2776. Retrieved November 18, 2023.
  11. ^ "UpToDate". UpToDate. Retrieved November 19, 2023.
  12. ^ Sussman, M.; Jones, J. H.; Almeida, June D.; Lachmann, P. J. "Deficiency of the second component of complement associated with anaphylactoid purpura and presence of mycoplasma in the serum". Clinical and Experimental Immunology. 14 (4). Oxford University Press. PMID 4583776. Retrieved November 19, 2023.
  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. 58 (1). Elsevier BV: 83–91. doi:10.1016/0002-9343(75)90537-9. ISSN 0002-9343. Retrieved November 18, 2023.
  14. ^ JP, Callen; SJ, Hodge; KB, Kulick; G, Stelzer; JJ, Buchino. "Subacute cutaneous lupus erythematosus in multiple members of a family with C2 deficiency". Archives of dermatology. 123 (1). Arch Dermatol. 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. 313 (1). Massachusetts Medical Society: 11–16. doi:10.1056/nejm198507043130103. ISSN 0028-4793. Retrieved November 18, 2023.

Further reading

External links

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