. DEFECTS OF INNATE IMMUNITY .

Complement System Deficiencies panel [38 genes]

Defects in complement system components increase susceptibility to infection and autoimmune disorders, whereas defects in complement regulatory proteins may lead to serious disorders due to unrestricted activation. The clinical expression of genetically determined deficiencies of the complement system is variable and depends on the role of the deficient component in normal host defence and inflammation. Clinical features are diverse, but cluster into features that align with the known functions of complement: prevention of infection, disposal of apoptotic cells and immune complexes, and protection of endothelial surfaces.

Clinical features

  • Infections, disseminated, recurrent
  • Inflammation
  • Onset: infancy to adulthood

Prevalence

  • ~1-10% of PIDs
  • 0.03% in the general population

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Vaccination against encapsulated bacteria
  • Antibiotics
  • Antiinflammatory  therapy

C1QA, C1QB, C1QC, C1R, C1S, C2, C3, C4A, C4B, C5, C6, C7, C8A, C8B, C8G, C9, CD46, CD55, CD59, CFB, CFD, CFH, CFHR1, CFHR2, CFHR3, CFHR4, CFHR5, CFI, CFP, DGKE, F12, FCN3, G6PD, MASP1, MASP2, MBL2, SERPING1, THBD