. DEFECTS OF INNATE IMMUNITY .

Pyogenic Infections, Recurrent panel [6 genes]

Complement Lectin Pathway Deficiency

Defects in the genes encoding the components of the complement’s lectin pathway predispose carriers to recurrent infections. Deficiency of MBL generally increases the risk of any type of infection but is mostly related to an increased frequency of pyogenic infections, including pneumococcal infection and sepsis, particularly in neonates/infants or in patients undergoing immunosuppressive treatment. In addition, primary deficiencies of C3 due to defects in cleavage products of C3 result in severe, recurrent pyogenic infections because of ineffective opsonization of pathogens.

Clinical features

  • Recurrent infections
  • Severe pyogenic infections
  • Onset: childhood, adults

Prevalence

  • Unknown
  • Few families described

Service benefits and management

  • Accurate diagnosis & prognosis
  • Complications management
  • Targeted treatment
  • Vaccination
  • Prophylactic antibiotics
  • Purified MBL under development

C3, CFB, FCN3, MASP1, MASP2, MBL2