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

University Hospital, Montpellier20 enrolled

Overview

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.

Study Type

OBSERVATIONAL

Enrollment

Conditions

CTLA4 Haploinsufficiency

Eligibility

Sex: ALLMin age: 12 Years

Medical Language ↔ Plain English

Inclusion criteria: \- Patients diagnosed with CTLA4 or LRBA mutation Exclusion criteria: \- Age \< 12 years

Locations (1)

Uhmontpellier

Montpellier, France

Outcomes

Primary Outcomes

Number of Neurologic impairment

Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology

Time frame: 1 day

Secondary Outcomes

Presence of reccurent infections

Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness

Time frame: 1 day

Data from ClinicalTrials.gov

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