Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Complement component C1r/C1s deficiency

The two complement components C1s and C1r coding genes C1S and C1R are in close tail-to-tail position, so it is not surpeising that gross deletions exist affecting both genes, contiguous gene syndrome. Clinically such defects are characterized by susceptibility to infectious disease. As the disorder is rare and the symptoms quite variable almost vanishing with age, it is not yet determined whether inheritance is dominant or recessive.

Systematic

Early pathway complement deficiencies
Complement component C1q deficiency
Complement component C1r/C1s deficiency
C1R
Complement component C1s deficiency

References:

1.

Nguyen VC et al. (1988) Assignment of the complement serine protease genes C1r and C1s to chromosome 12 region 12p13.

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2.

Rich KC et al. (1979) Inborn C1r dificiency with a mild lupus-like syndrome.

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3.

Lee SL et al. () Familial deficiency of two subunits of the first component of complement. C1r and C1s associated with a lupus erythematosus-like disease.

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4.

Loos M et al. (1986) Component deficiencies. 1. The first component: C1q, C1r, C1s.

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5.

Moncada B et al. (1972) Lupus-erythematosus-like syndrome with a familial defect of complement.

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6.

Day NK et al. (1972) C1r deficiency: an inborn error associated with cutaneous and renal disease.

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7.

OMIM.ORG article

Omim 216950 [^]
Update: April 29, 2019