Underlying CTLA4 Deficiency in a Patient With Juvenile Idiopathic Arthritis and Autoimmune Lymphoproliferative Syndrome Features Successfully Treated With Abatacept—A Case Report
| Autor: | Clara Malattia, Concetta Micalizzi, Michaela Calvillo, Marta Mazzoni, Angelo Ravelli, Alice Grossi, Elena Palmisani, Maurizio Miano, Stefania Viola, Erika Massaccesi, Francesca Fioredda, Daniela Guardo, Carlo Dufour, Paola Terranova, Isabella Ceccherini, Gianluca Dell'Orso |
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| Rok vydání: | 2021 |
| Předmět: |
Adolescent
Arthritis medicine.disease_cause Abatacept Hypogammaglobulinemia autoimmunity cytopenias cytotoxic T-lymphocyte antigen 4 deficiency immune dysregulation juvenile idiopathic arthritis primary immunodeficiencies Duodenitis medicine Humans CTLA-4 Antigen Immune Checkpoint Inhibitors business.industry Autoimmune Lymphoproliferative Syndrome Hematology Immune dysregulation Prognosis medicine.disease Arthritis Juvenile Oncology Autoimmune lymphoproliferative syndrome Mutation Pediatrics Perinatology and Child Health Immunology Female Polyarthritis Autoimmune hemolytic anemia business medicine.drug |
| Zdroj: | Journal of Pediatric Hematology/Oncology. 43:e1168-e1172 |
| ISSN: | 1077-4114 |
| DOI: | 10.1097/mph.0000000000002120 |
| Popis: | Background Functional variants of the cytotoxic T-lymphocyte antigen-4 (CTLA4) could contribute to the pathogenesis of disorders characterized by abnormal T-cell responses. Case presentation We report a case of a 13-year-old girl who first presented with polyarticular juvenile idiopathic arthritis poorly responsive to treatment. During the following years the patient developed cytopenias, chronic lymphoproliferation, high values of T-cell receptor αβ+ CD4- CD8- double-negative T cells and defective Fas-mediated T cells apoptosis. Autoimmune lymphoproliferative syndrome was diagnosed and therapy with mycophenolate mofetil was started, with good hematological control. Due to the persistence of active polyarthritis, mycophenolate mofetil was replaced with sirolimus. In the following months the patient developed hypogammaglobulinemia and started having severe diarrhea. Histologically, duodenitis and chronic gastritis were present. Using the next generation sequencing-based gene panel screening, a CTLA4 mutation was detected (p.Cys58Serfs*13). At the age of 21 the patient developed acute autoimmune hemolytic anemia; steroid treatment in combination with abatacept were started with clinical remission of all symptoms, even arthritis. Conclusions Targeted immunologic screening and appropriate genetic tests could help in the diagnosis of a specific genetically mediated immune dysregulation syndrome, allowing to select those patients who can take advantage of target therapy, as in the case of abatacept in CTLA4 deficiency. |
| Databáze: | OpenAIRE |
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