Article
Rapid genome sequencing identifies novel variants in complement factor I.
Cold Spring Harbor molecular case studies - 1 Dec 2022
Rodriguez Katherine M, Vaught Jordan, Dilley Michelle, Ellsworth Kataryzna, Heinen Alaina, Abud Edsel M, Zhang Yuzhou, Smith Richard J H, Sheets Robert, Geng Bob, Hoffman Hal M, Worthen H Michael, Dimmock David, Coufal Nicole G
Abstract excerpt
Complement factor I deficiency (CFID; OMIM #610984) is a rare immunodeficiency caused by deficiencies in the serine protease complement factor I (CFI). CFID is characterized by predisposition to severe pneumococcal infection, often in infancy. We report a previously healthy adolescent male who presented with respiratory failure secondary to pneumococcal pneumonia and severe systemic inflammatory response. Rapid...
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