Terminal complement pathway deficiency

Terminal complement pathway deficiency
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Terminal complement pathway deficiency is a genetic condition affecting the complement membrane attack complex (MAC).

It involves deficiencies of C5, C6, C7, and C8. (While C9 is part of the MAC, and deficiencies have been identified,<ref name="pmid7430628">,

 Inherited deficiency of the ninth component of complement in man, 
 J. Immunol., 
 
 Vol. 125(Issue: 5),
 pp. 2252–7,
 
 PMID: 7430628,
 
 
 Full text,</ref> it is not required for cell lysis.<ref name="HabermannClinic2007">, 
  
 Mayo Clinic Internal Medicine Concise Textbook. online version, 
  
 CRC Press, 
  
  
  
 ISBN 978-1-4200-6749-1, 
  
  
  
 Pages: 30–,</ref>)

People with this condition are prone to meningococcal infection.<ref name="Bhattacharya">{{{last}}},

 J.K. Sinha, 
  
 A Text Book of Immunology. online version, 
  
 Academic Publishers, 
  
  
  
 ISBN 978-81-89781-09-5, 
  
  
  
 Pages: 385–,</ref> Vaccination may be recommended.<ref name="Southwick2007">{{{last}}}, 
 Frederick S. Southwick, 
  
 Infectious diseases: a clinical short course. online version, 
  
 McGraw Hill Professional, 
  
  
  
 ISBN 978-0-07-147722-2, 
  
  
  
 Pages: 149–,</ref>

Diagnosis

Suspect terminal complement pathway deficiency with patients who have more than one episode of Neisseria infection.

Complement tests

C4 (C)	FB (A)	C3	CH50	Conditions
·	↓	↓	↓	PSG, C3 NeF AA
↓	·	↓	·	HAE, C4D
·	·	·	↓	TCPD
↓	·/↓	↓	↓	SLE
↑	↑	↑	↑	inflammation

Initial complement tests often include C3 and C4, but not C5 through C9. Instead, the CH50 result may play a role in diagnosis: if the CH50 level is low but C3 and C4 are normal, then analysis of the individual terminal components may be warranted.

Treatment

Patients with terminal complement pathway deficiency should receive meningococcal and pneumococcal vaccinations. They can receive live vaccines.

External links

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Terminal complement pathway deficiency

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