7.3.3 Genetic deficiencies of complement system
  • C2 is the most common
  • No serious complications usually
  • C3 deficiency
  • Bacterial infections
  • C1q, C2, C4 deficiency
  • Increased risk of immune-complex disease
  • C1 esterase inhibitor deficiency
  • Hereditary angioedema
      • An inherited, autosomal dominant disease characterized by episodic appearance of brawny nonpitting edema, most often affecting the extremities but can involve any part of the body, including mucosal surfaces such as those of the intestine (causing abdominal pain) or respiratory tract (causing asphyxia, which can require intubation to avoid fatal outcome). Associated with deficiency of inhibitor of first component of complement pathway (C1). Emergency treatment with epinephrine, long-term treatment with a variety of agents is effective.
  • C5-C8 deficiency
    • Infections (Neisseria)
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