X-linked properdin deficiency

A complement deficiency characterized by decreased plasma levels of complement factor properdin and increased susceptibility to Neisseria species infections that has_material_basis_in homozygous or hemizygous mutation in PFC on chromosome Xp11.23.

Signs and symptoms

• Dysfunctional alternative complement pathway
• Abnormal circulating properdin concentration

Also known as: CFPD; complement factor properdin deficiency