Severe recurrent neuroinflammation associated with cytotoxic T-lymphocyte antigen-4 (CTLA4) haploinsufficiency (P1.330)

Conclusions:CTLA4 mutations are associated with a distinct pattern of neuroinflammation. Supported by available pathology, the clinical-radiological discordance suggests that even large, enhancing lesions need not be destructive, even when behaving as space-occupying masses. Further characterization and modeling of this genetic disorder may provide insight into the mechanisms underlying other neuroimmunological disorders.Study Supported by: Fellowship funding from the National Multiple Sclerosis Society-American Brain Foundation. Intramural funds from the National Institute of Neurological Disorders and Stroke.Disclosure: Dr. Schindler has nothing to disclose. Dr. Pittaluga has nothing to disclose. Dr. Uzel has nothing to disclose. Dr. Reich has received research support from Vertex Pharmaceuticals. Dr. Cortese has nothing to disclose.

Source: Neurology - April 17, 2017 Category: Neurology Authors: Schindler, M., Pittaluga, S., Uzel, G., Reich, D., Cortese, I. Tags: CNS Inflammatory Diseases and Differential Diagnosis I Source Type: research