Complement factor D haplodeficiency is associated with a reduced complement activation speed and diminished bacterial killing

摘要

Complete deficiency of alternative pathway (AP) complement factors, explained by homozygous mutations, is a well‐known risk factor for invasive bacterial infections; however, this is less obvious for heterozygous mutations. We describe two siblings with a heterozygous {"type":"entrez-nucleotide","attrs":{"text":"NM_001928.3","term_id":"955654849","term_text":"NM_001928.3"}}NM_001928.3(CFD):c.125C>A p.(Ser42*) mutation in the complement factor D (fD) gene having a history of recurrent bacterial infections. We determined the effect of heterozygous fD deficiency on AP complement activity.