CTLA4 Haploinsufficiency Clinical Trial
Official title:
Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency
CTLA4 and LRBA deficiencies are rare genetic disorders, recently described, and associated with multiple clinical features. It ranges from recurrent infections, auto-immunity, and organ infiltration with lymphocytes. Neurologic syndroms are described in up to 30% of patients, yet they are poorly defined to date. Early recognition of a specific pattern can be important, given that there is a targeted therapy in this situation.
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