Complement component 8 deficiency
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Complement component 8 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. People with complement component 8 deficiency have a significantly increased risk of recurrent bacterial infections, particularly by a bacterium called Neisseria meningitidis. Infection by this bacterium causes inflammation of the membranes surrounding the brain and spinal cord (meningitis). Although meningitis can be life-threatening, individuals with complement component 8 deficiency are less likely to die from the infection than people in the general population who contract it.
Descrição
Complement component 8 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. People with complement component 8 deficiency have a significantly increased risk of recurrent bacterial infections, particularly by a bacterium called Neisseria meningitidis. Infection by this bacterium causes inflammation of the membranes surrounding the brain and spinal cord (meningitis). Although meningitis can be life-threatening, individuals with complement component 8 deficiency are less likely to die from the infection than people in the general population who contract it.
The severity of complement component 8 deficiency varies widely. While some people with this condition experience one or more infections, others do not have any health problems related to the disorder.
There are two types of complement component 8 deficiency, types I and II, classified by their genetic cause. The two types have the same signs and symptoms.
Padrões de herança
The source lists the following possible inheritance patterns: Autosomal recessive. More than one pattern can apply in different cases.
Related genes
Other names
C8 deficiency
Related patient information and medicines
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Sol e queimaduras solares
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Leitura adicional e referências
- Complement component 8 deficiency; MedlinePlus, National Library of Medicine.
- Bubeck D. The making of a macromolecular machine: assembly of the membrane attack complex. Biochemistry. 2014 Apr 1;53(12):1908-15. doi: 10.1021/bi500157z. Epub 2014 Mar 18.
- Kaufmann T, Hansch G, Rittner C, Spath P, Tedesco F, Schneider PM. Genetic basis of human complement C8 beta deficiency. J Immunol. 1993 Jun 1;150(11):4943-7.
- Kojima T, Horiuchi T, Nishizaka H, Fukumori Y, Amano T, Nagasawa K, Niho Y, Hayashi K. Genetic basis of human complement C8 alpha-gamma deficiency. J Immunol. 1998 Oct 1;161(7):3762-6.
- Merle NS, Noe R, Halbwachs-Mecarelli L, Fremeaux-Bacchi V, Roumenina LT. Complement System Part II: Role in Immunity. Front Immunol. 2015 May 26;6:257. doi: 10.3389/fimmu.2015.00257. eCollection 2015.
- Rosa DD, Pasqualotto AC, de Quadros M, Prezzi SH. Deficiency of the eighth component of complement associated with recurrent meningococcal meningitis--case report and literature review. Braz J Infect Dis. 2004 Aug;8(4):328-30. doi: 10.1590/s1413-86702004000400010. Epub 2004 Nov 19.
- Saucedo L, Ackermann L, Platonov AE, Gewurz A, Rakita RM, Densen P. Delineation of additional genetic bases for C8 beta deficiency. Prevalence of null alleles and predominance of C-->T transition in their genesis. J Immunol. 1995 Nov 15;155(10):5022-8.
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