Complement Factor I deficiency: A novel homozygous gene mutation

Abstract

Complement Factor I deficiency is a very rare autosomal recessive disease, with only 38 cases reported in the literature. It is caused by a homozygous mutation in the CFI gene (complement Factor I), which encodes for the Factor I protein, an important regulator of the complement system. Clinically, complement Factor I deficiency presents various symptoms in several organs. We report the case of a child with a history of seizures and unexplained recurrent fever. Whole exome sequencing revealed a novel homozygous missense CFI gene mutation (V270F) of unknown significance. Using multiple bioinformatics tools, we suggest the probable pathogenicity of this mutation. This analysis will help us manage precisely his case, preventing infections and the development of kidney failure, a possible and fatal consequence of complement Factor I deficiency. This study emphasizes the importance of molecular analysis in the diagnosis of rare and atypical diseases and in the establishment of appropriate and effective care.