C1s deficiency

C1s deficiency is associated with early onset multiple autoimmune diseases. The genes for C1R and CIS are highly homologous and lie closely linked to chromosome 12p13 and are produced primarily in liver and macrophages.

Alternative names

Classification

  • Defects of the classical complement cascade proteins
    • C1r and C1s deficiency

Inheritance

Autosomal recessive

OMIM

+120580 Complement component 1, s subcomponent; C1S

Cross references

Phenotypically related immunodeficiencies

IDR factfile for C1r deficiency

Incidence

Incidence unknown.