Medical condition
Complement 2 deficiency Other names C2 deficiency, Complement component 2 deficiency, C2D.
Structure of the C2 protein
Specialty
Hematology
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
^ 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 .
^ 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 .
^ Parija (2009-01-01).
Textbook of Microbiology & Immunology . Elsevier India. pp. 125–.
ISBN
978-81-312-2163-1 . Retrieved 13 November 2010 .
^
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 .
^ 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.
Bibcode :
2009NYASA1173..108P .
doi :
10.1111/j.1749-6632.2009.04633.x .
ISSN
0077-8923 .
PMID
19758139 .
^
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 .
PMC
358203 .
PMID
1889047 .
^ 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 .
PMID
15643297 . Retrieved November 18, 2023 .
^ 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 .
PMC
2952982 .
PMID
20930072 .
^ Walport, Mark J (2002).
"Complement and systemic lupus erythematosus" . Arthritis Research . 4 (Suppl 3). Springer Science and Business Media LLC: S279–S293.
doi :
10.1186/ar586 .
ISSN
1465-9905 .
PMC
3240161 .
PMID
12110148 .
^ 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 .
^
"UpToDate" . UpToDate . Retrieved November 19, 2023 .
^ 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 . 14 (4). Oxford University Press: 531–539.
PMC
1553813 .
PMID
4583776 .
^ 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 .
PMID
1090155 . Retrieved November 18, 2023 .
^ 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 . 123 (1). Arch Dermatol: 66–70.
doi :
10.1001/archderm.1987.01660250072021 .
ISSN
0003-987X .
PMID
3467658 . Retrieved November 18, 2023 .
^ 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 .
PMID
2582254 . Retrieved November 18, 2023 .
Further reading
External links