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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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| Measure | Description | Time Frame |
|---|---|---|
| Number of Neurologic impairment | Neurologic signs and symptoms (headaches, seizures…), cerebral MRI features, lumbar puncture, histopathology | 1 day |
| Measure | Description | Time Frame |
|---|---|---|
| Presence of reccurent infections | Presence of reccurent infections and type, granulomatous disease, cancer predisposition, immunologic biological tests, type of treatments and effectiveness | 1 day |
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Inclusion criteria:
- Patients diagnosed with CTLA4 or LRBA mutation
Exclusion criteria:
- Age < 12 years
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Patients listed with CTLA4 or LRBA deficiency in the register of the national reference center for primary immunodeficiencies.
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| Name | Affiliation | Role |
|---|---|---|
| Xavier Ayrignac, MD | University Hospital, Montpellier | Study Director |
| Facility | Status | City | State | ZIP | Country | Contacts |
|---|---|---|---|---|---|---|
| Uhmontpellier | Montpellier | 34295 | France |
| PubMed Identifier | Type | Citation | Retractions |
|---|---|---|---|
| 32955488 | Result | Schindler MK, Pittaluga S, Enose-Akahata Y, Su HC, Rao VK, Rump A, Jacobson S, Cortese I, Reich DS, Uzel G. Haploinsufficiency of immune checkpoint receptor CTLA4 induces a distinct neuroinflammatory disorder. J Clin Invest. 2020 Oct 1;130(10):5551-5561. doi: 10.1172/JCI135947. | |
| 32499327 | Result | Ayrignac X, Goulabchand R, Jeziorski E, Rullier P, Carra-Dalliere C, Lozano C, Portales P, Vincent T, Viallard JF, Menjot de Champfleur N, Rieux-Laucat F, Besnard C, Koenig M, Guissart C, Labauge P, Guilpain P. Two neurologic facets of CTLA4-related haploinsufficiency. Neurol Neuroimmunol Neuroinflamm. 2020 Jun 4;7(4):e751. doi: 10.1212/NXI.0000000000000751. Print 2020 Jul. |
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NC
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| ID | Term |
|---|---|
| C563326 | Diabetes Mellitus, Insulin-Dependent, 12 |
| D000081207 | Primary Immunodeficiency Diseases |
| D000090862 | Neuroinflammatory Diseases |
| D030342 | Genetic Diseases, Inborn |
| D001327 | Autoimmune Diseases |
| ID | Term |
|---|---|
| D009358 | Congenital, Hereditary, and Neonatal Diseases and Abnormalities |
| D007153 | Immunologic Deficiency Syndromes |
| D007154 | Immune System Diseases |
| D009422 | Nervous System Diseases |
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| 25329329 | Result | Schubert D, Bode C, Kenefeck R, Hou TZ, Wing JB, Kennedy A, Bulashevska A, Petersen BS, Schaffer AA, Gruning BA, Unger S, Frede N, Baumann U, Witte T, Schmidt RE, Dueckers G, Niehues T, Seneviratne S, Kanariou M, Speckmann C, Ehl S, Rensing-Ehl A, Warnatz K, Rakhmanov M, Thimme R, Hasselblatt P, Emmerich F, Cathomen T, Backofen R, Fisch P, Seidl M, May A, Schmitt-Graeff A, Ikemizu S, Salzer U, Franke A, Sakaguchi S, Walker LSK, Sansom DM, Grimbacher B. Autosomal dominant immune dysregulation syndrome in humans with CTLA4 mutations. Nat Med. 2014 Dec;20(12):1410-1416. doi: 10.1038/nm.3746. Epub 2014 Oct 20. |
| D007249 | Inflammation |
| D010335 | Pathologic Processes |
| D013568 | Pathological Conditions, Signs and Symptoms |