Successful cure of C1q deficiency in human subjects treated with hematopoietic stem cell transplantation

Abstract

Hematopoietic stem cell transplantation (HSCT) is used to cure a number of primary immunodeficiency diseases but has never been attempted for patients with complement deficiencies because most complement factors are produced in the liver rather than the bone marrow. Inherited deficiency of the C1q component of the classical complement pathway is a severe autosomal recessive immunodeficiency disease associated with a high risk of death from either fulminant bacterial infections or systemic lupus erythematosus–like autoimmunity.