. DEFECTS OF INNATE IMMUNITY .

Systemic Lupus Erythematous (SLE)-like Syndrome panel [8 genes]

Complement’s Classical Pathway Deficiency

The classical pathway of the complement system is activated primarily by immune complexes. The rheumatic diseases seen in complement-deficient patients can result from disordered humoral immunity, since the complement system is important in the generation and expression of an adequate antibody response. It is also partially required for tolerance induction. Rheumatic and autoimmune manifestations occur frequently in C1q- and C3-deficient patients. In addition, some rheumatic disorders may be the consequence of an altered host response to recurrent or chronic viral infections.

Clinical features

  • Rheumatic, SLE-like symptoms
  • Onset: childhood, adults

Prevalence

  • Rare

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Antiinflammatory therapy
  • Vaccination
  • Prophylactic antibiotics

C1QA, C1QB, C1QC, C1R, C1S, C2, C4A, C4B