Case Report

Complement-4 Deficiency in a Child with Systemic Lupus Erythematosus Presenting with Standard Treatment-Resistant Severe Skin Lesion

Table 1

The results of complement gene analysis.

C4A geneC4B gene
ExonAminoacid mutationStateExonAminoacid mutationState

9S374Yh26L1120Ph
23E959Dh26S1121Ch
24L986Lh26I1124Lh
28D1176Sh26H1125Dh
28A1205Ah28A1205Ah
28V1207Ah28V1207Ah
28L1210Ah28L1210Ah
10. Intron+19G > Ch19. Intron+33C > TH
12. Intron+23C > Ah20. Intron+7G > AH

h: Heterozygote, H: Homozygote.