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 gene | C4B gene | Exon | Aminoacid mutation | State | Exon | Aminoacid mutation | State |
| 9 | S374Y | h | 26 | L1120P | h | 23 | E959D | h | 26 | S1121C | h | 24 | L986L | h | 26 | I1124L | h | 28 | D1176S | h | 26 | H1125D | h | 28 | A1205A | h | 28 | A1205A | h | 28 | V1207A | h | 28 | V1207A | h | 28 | L1210A | h | 28 | L1210A | h | 10. Intron | +19G > C | h | 19. Intron | +33C > T | H | 12. Intron | +23C > A | h | 20. Intron | +7G > A | H |
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h: Heterozygote, H: Homozygote.
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