Disseminated gonococcal infection [9 genes]

Defects in the genes encoding the terminal components of the complement pathway (C5 to C9) predispose to recurrent systemic Neisseria infections, because the elimination of these bacteria depends largely on C5b-9-mediated lysis. Additionally, deficiency of properdin (encoded by CFP) generally leads to severe Neisseria infections.

• Rare

• Diagnosis and genetic counseling
• Vaccination with polyvalent anti-meningococcal vaccine
• Antibiotics

The pathogenic variant identification in the genes of the panel allows for a precise molecular diagnosis, in addition to providing genetic advice. Positive genetic testing can help direct patient management and evaluate treatment options. Vaccination with a multivalent anti-meningococcal vaccine and antibiotic prophylaxis are measures considered in this clinical context.

This diagnostic panel is highly specific when there is a biochemical deficiency in the terminal components of complement as an inherent cause of predisposition to Gram-negative (-) bacterial infections.