Disseminated gonococcal infection secondary to a rare homozygous mutation resulting in complement factor I deficiency.

ABSTRACT: A 34-year-old male presented with recurrent fever, arthralgia, and rash. He had two prior hospitalizations for suspected vasculitis and meningococcal meningitis at age 13 years. Positive blood cultures for Neisseria gonorrhoeae established the diagnosis of disseminated gonococcal infection. Complement studies showed low total (CH50) and alternative pathway (AP50) activity and low levels of all alternative and terminal complement proteins and the complement inhibitors factor H and factor I (FI), suggesting uninhibited complement activation and complement consumption. A homozygous nonsense mutation leading to a premature stop codon (p.Arg474*, or R456X) in CFI predicted complete FI deficiency, which was confirmed by immunoblotting. The patient's serum contained IgG against redu

SUBMITTER: Almpani M 

PROVIDER: S-EPMC12829745 | biostudies-literature | 2025 Sep

REPOSITORIES: biostudies-literature