Complement Factor I deficiency: A novel homozygous gene mutation
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,...
| Main Authors: | , , , , |
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| Format: | Article |
| Language: | English |
| Published: |
SAGE Publishing
2022-06-01
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| Series: | SAGE Open Medical Case Reports |
| Online Access: | https://doi.org/10.1177/2050313X221105992 |