Complement component C1s deficiency is an autosomal recessive disorder caused by mutations of the C1S gene. Clinical presentation include autimmune disorderss such as lupus erythematodes and glomerulonephrtis.
Early pathway complement deficiencies | ||||
Complement component C1q deficiency | ||||
Complement component C1r/C1s deficiency | ||||
Complement component C1s deficiency | ||||
C1S | ||||
1. |
Inoue N et al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene. |
2. |
Dragon-Durey MA et al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases. |
3. |
OMIM.ORG article Omim 613783 |