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. 2022 Apr 4;45(1):51–59. doi: 10.1590/2175-8239-JBN-2021-0206

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.