CSC & CHOP clinicians publish new research on ultra rare form of neuroinflammatory disease

Researchers from Children’s Hospital of Philadelphia (CHOP) and the Clinic for Special Children found that complement factor I (CFI) deficiency, an ultra-rare genetic disorder that can cause debilitating neuroinflammation, is more than 4500 times more likely to be found in individuals of Old Order Amish ancestry than the rest of the global population. These findings could help clinicians better recognize the disease and develop a standard-of-care, particularly for Amish patients affected by this disease. The findings were recently published by the Journal of Allergy and Clinical Immunology.

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