At just a few weeks old, the child began experiencing life-threatening respiratory infections. Genetic testing revealed a gene abnormality that inhibited a key protein in the respiratory tract from initiating an immune response against the virus. The child survived after receiving intensive care and eventually developed protective antibodies as her immune system developed.
The discovery of the genetic mutation may lead to the development of new strategies for treating patients who experience severe complications when infected with the common cold.
“The human immune response to common cold viruses is poorly understood,” said NIAID Director Anthony Fauci, MD. “By investigating this unique case, our researchers not only helped this child but also helped answer some important scientific questions about these ubiquitous infections that affect nearly everyone.”
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