Recurrent pyogenic infections caused by a novel Gln1420* mutation in the C3 gene
C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, r...
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| Main Authors: | , , , , , |
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| Format: | Book |
| Published: |
Frontiers Media S.A.,
2022-10-01T00:00:00Z.
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| Online Access: | Connect to this object online. |
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| Summary: | C3 is a crucial protein of the complement system. Congenital C3 deficiency is extremely rare and manifests through recurrent, severe infections and should always be considered as a differential diagnosis of recurrent pyogenic infections. We report a case of a patient with a novel C3 gene mutation, responsible for complete C3 deficiency with impaired complement system activation and recurrent infections. |
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| Item Description: | 2296-2360 10.3389/fped.2022.1017195 |