Recurrent Tumefactive Central Nervous System Lesions Due to BRIP1-Related Fanconi Anemia.

The neurologist(2023)

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摘要
Mechanistically, the specific role of BRIP1 mutation in CNS inflammation and vasculopathy is unclear. However, immunodeficiency disorders can lead to autoimmunity and/or immune dysregulation due to the possible loss or gain of function of components of the immune system.
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