C1q deficiency

Epidemiology

rare

Pathology

• loss of activation of the complement classical pathway

Genetics

• associated with defects in complement C1q components C1QA, C1QB, C1QC

Clinical manifestations

• recurrent infections
• high prevalence of lupus erythematosus-like symptoms

More general terms

• immunologic disease

Database

• OMIM: https://mirror.omim.org/entry/120550