PMC9589888_01
(A) Family tree. (B) Complement laboratory evaluation. WT, Wild type.
fped-10-1017195-g001.jpg
PMC9589888_02_fped-10-1017195-g001.jpg
F1
Diagnostic workup revealed undetectable classical complement pathway activity (CH50) and C3 levels (Figure 1B). I factors, and raised C5 and C9 levels, probably related to an underlying inflammatory status (Figure 1B). Immunoglobulin G, A and M were within normal range. The patient's family was screened and both parents and his 3-year-old brother were shown to be healthy carriers of the mutation (Figures 1A,B).
PMC9589888_02
(A) Family tree. (B) Complement laboratory evaluation. WT, Wild type.
fped-10-1017195-g001.jpg
PMC9589888_02_fped-10-1017195-g001.jpg
F1
Diagnostic workup revealed undetectable classical complement pathway activity (CH50) and C3 levels (Figure 1B). I factors, and raised C5 and C9 levels, probably related to an underlying inflammatory status (Figure 1B). Immunoglobulin G, A and M were within normal range. The patient's family was screened and both parents and his 3-year-old brother were shown to be healthy carriers of the mutation (Figures 1A,B).