Neurologic and Immunologic Characteristics of CTLA-4 and LRBA Hereditary Deficiency

University Hospital Center (CHU)

Status: Completed

Conditions: CTLA4 Haploinsufficiency

Study type: Observational

Funder types: Other

Identifiers

NCT05040256

RECHMPL21_0290

Details and patient eligibility

About

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.

Enrollment: 20 patients

Sex: All

Ages: 12+ years old

Volunteers: No Healthy Volunteers

Inclusion criteria

• Patients diagnosed with CTLA4 or LRBA mutation

Exclusion criteria

• Age < 12 years