. DEFECTS OF INNATE IMMUNITY .

Disseminated Neisserial Infections panel [9 genes]

Complement’s Terminal Pathway Deficiency

Defects in genes encoding the terminal components of the complement pathway (C5 to C9) predispose for recurrent systemic neisserial infections because the clearance of these bacteria is highly dependent on C5b-9-mediated lysis. Additionally, deficiency of properdin (encoded by CFP) usually leads to severe neisserial infections.

Clinical features

  • Neisseria spp. infections
  • Onset: childhood, adults

Prevalence

  • Rare

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Vaccination with polyvalent meningococcal vaccine
  • Antibiotics

C5, C6, C7, C8A, C8B, C8G, C9, CFD, CFP