Table 2. Etiological study of the patients.
| Genes/ variants | Classification | n | |
|---|---|---|---|
| Complement dysregulation (genetic analysis performed in 6 patients) | C3: c.193A>C, p.(Lys65Gln) in homozygosity | Likely pathogenic variant | 1 |
| CFI: c.530T>A, p.(Asn177Ile) in heterozygosity (plus 2 risk haplotypes in CFH and in MCP) | VUS | 1 | |
| CFH: c.3653G>T, p.(Cys1218Phe) in heterozygosity | 1 | ||
| Complete homozygous deletion of CFHR1 and CFHR3 (with anti-factor H antibodies production) | 1 | ||
| Complete homozygous deletion of CFHR1 and CFHR3 (without anti-factor H antibodies production) | 1 | ||
| Specific infectious agent (infectious etiological search performed in 16 patients) | E. coli | 5 | |
| S. pneumoniae | 2 | ||
CFI: complement factor I; CFH: complement factor H; CFHR1: complement factor H-related protein 1; CFHR3: complement factor H-related protein 3; MCP: membrane cofactor protein; VUS: variant of unknown significance.