C1r deficiency

C1r 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

+216950 Complement component C1r deficiency

Cross references

Phenotypically related immunodeficiencies

IDR factfile for C1s deficiency

Incidence

Incidence is not known.