Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C1s deficiency

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.

Systematic

Early pathway complement deficiencies
Complement component C1q deficiency
Complement component C1r/C1s deficiency
Complement component C1s deficiency
C1S

References:

1.

Inoue N et. al. (1998) Selective complement C1s deficiency caused by homozygous four-base deletion in the C1s gene.

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2.

Dragon-Durey MA et. al. (2001) Molecular basis of a selective C1s deficiency associated with early onset multiple autoimmune diseases.

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Update: Sept. 26, 2018