Case report: Myocarditis in congenital STAT1 gain-of function
Autosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in an inborn error of immunity characterized by chronic mucocutaneous candidiasis, recurrent viral and bacterial infections, and diverse autoimmune manifestations. Current treatment...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2023-03-01
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| Series: | Frontiers in Immunology |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1095595/full |
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| author | Frederik Staels Frederik Staels Willem Roosens Simone Giovannozzi Simone Giovannozzi Leen Moens Jan Bogaert Cecilia Iglesias-Herrero Cecilia Iglesias-Herrero Rik Gijsbers Xavier Bossuyt Glynis Frans Adrian Liston Adrian Liston Stephanie Humblet-Baron Isabelle Meyts Isabelle Meyts Lucas Van Aelst Rik Schrijvers |
| author_facet | Frederik Staels Frederik Staels Willem Roosens Simone Giovannozzi Simone Giovannozzi Leen Moens Jan Bogaert Cecilia Iglesias-Herrero Cecilia Iglesias-Herrero Rik Gijsbers Xavier Bossuyt Glynis Frans Adrian Liston Adrian Liston Stephanie Humblet-Baron Isabelle Meyts Isabelle Meyts Lucas Van Aelst Rik Schrijvers |
| author_sort | Frederik Staels |
| collection | DOAJ |
| description | Autosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in an inborn error of immunity characterized by chronic mucocutaneous candidiasis, recurrent viral and bacterial infections, and diverse autoimmune manifestations. Current treatment consists of chronic antifungal therapy, antibiotics for concomitant infections, and immunosuppressive therapy in case of autoimmune diseases. More recently, treatment with Janus kinases 1 and 2 (JAK1/2) inhibitors have shown promising yet variable results. We describe a STAT1 GOF patient with an incidental finding of elevated cardiac troponins, leading to a diagnosis of a longstanding, slowly progressive idiopathic myocarditis, attributed to STAT1 GOF. Treatment with a JAK-inhibitor (baricitinib) mitigated cardiac inflammation on MRI but was unable to alter fibrosis, possibly due to the diagnostic and therapeutic delay, which finally led to fatal arrhythmia. Our case illustrates that myocarditis could be part of the heterogeneous disease spectrum of STAT1 GOF. Given the insidious presentation in our case, a low threshold for cardiac evaluation in STAT1 GOF patients seems warranted. |
| first_indexed | 2024-04-09T23:37:57Z |
| format | Article |
| id | doaj.art-061572d412a24b048567c236fa13b3dd |
| institution | Directory Open Access Journal |
| issn | 1664-3224 |
| language | English |
| last_indexed | 2024-04-09T23:37:57Z |
| publishDate | 2023-03-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Immunology |
| spelling | doaj.art-061572d412a24b048567c236fa13b3dd2023-03-20T04:23:58ZengFrontiers Media S.A.Frontiers in Immunology1664-32242023-03-011410.3389/fimmu.2023.10955951095595Case report: Myocarditis in congenital STAT1 gain-of functionFrederik Staels0Frederik Staels1Willem Roosens2Simone Giovannozzi3Simone Giovannozzi4Leen Moens5Jan Bogaert6Cecilia Iglesias-Herrero7Cecilia Iglesias-Herrero8Rik Gijsbers9Xavier Bossuyt10Glynis Frans11Adrian Liston12Adrian Liston13Stephanie Humblet-Baron14Isabelle Meyts15Isabelle Meyts16Lucas Van Aelst17Rik Schrijvers18Department of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunology, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, BelgiumDepartment of Pharmaceutical and Pharmacological Sciences, Laboratory of Molecular Virology and Gene Therapy, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Laboratory of Inborn Errors of Immunity, KU Leuven, Leuven, BelgiumDepartment of Imaging and Pathology, Translational MRI, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, BelgiumDepartment of Pharmaceutical and Pharmacological Sciences, Laboratory of Molecular Virology and Gene Therapy, KU Leuven, Leuven, BelgiumDepartment of Pharmaceutical and Pharmacological Sciences, Laboratory of Molecular Virology and Gene Therapy, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Experimental Laboratory Immunology, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Experimental Laboratory Immunology, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunology, KU Leuven, Leuven, BelgiumLaboratory of Lymphocyte Signaling and Development, Babraham Institute, Cambridge, United KingdomDepartment of Microbiology, Immunology and Transplantation, Laboratory of Adaptive Immunology, KU Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Laboratory of Inborn Errors of Immunity, KU Leuven, Leuven, BelgiumDepartment of Pediatrics, University Hospitals Leuven, Leuven, BelgiumDepartment of Cardiovascular Diseases, University Hospitals Leuven, Leuven, BelgiumDepartment of Microbiology, Immunology and Transplantation, Allergy and Clinical Immunology Research Group, KU Leuven, Leuven, BelgiumAutosomal dominant Signal transducer and activator of transcription 1 (STAT1) gain-of-function (GOF) mutations result in an inborn error of immunity characterized by chronic mucocutaneous candidiasis, recurrent viral and bacterial infections, and diverse autoimmune manifestations. Current treatment consists of chronic antifungal therapy, antibiotics for concomitant infections, and immunosuppressive therapy in case of autoimmune diseases. More recently, treatment with Janus kinases 1 and 2 (JAK1/2) inhibitors have shown promising yet variable results. We describe a STAT1 GOF patient with an incidental finding of elevated cardiac troponins, leading to a diagnosis of a longstanding, slowly progressive idiopathic myocarditis, attributed to STAT1 GOF. Treatment with a JAK-inhibitor (baricitinib) mitigated cardiac inflammation on MRI but was unable to alter fibrosis, possibly due to the diagnostic and therapeutic delay, which finally led to fatal arrhythmia. Our case illustrates that myocarditis could be part of the heterogeneous disease spectrum of STAT1 GOF. Given the insidious presentation in our case, a low threshold for cardiac evaluation in STAT1 GOF patients seems warranted.https://www.frontiersin.org/articles/10.3389/fimmu.2023.1095595/fullprimary immunodeficienciesSTAT1 GOFmyocarditisinfectious susceptibilitychronic mucocutaneous candidiasis |
| spellingShingle | Frederik Staels Frederik Staels Willem Roosens Simone Giovannozzi Simone Giovannozzi Leen Moens Jan Bogaert Cecilia Iglesias-Herrero Cecilia Iglesias-Herrero Rik Gijsbers Xavier Bossuyt Glynis Frans Adrian Liston Adrian Liston Stephanie Humblet-Baron Isabelle Meyts Isabelle Meyts Lucas Van Aelst Rik Schrijvers Case report: Myocarditis in congenital STAT1 gain-of function Frontiers in Immunology primary immunodeficiencies STAT1 GOF myocarditis infectious susceptibility chronic mucocutaneous candidiasis |
| title | Case report: Myocarditis in congenital STAT1 gain-of function |
| title_full | Case report: Myocarditis in congenital STAT1 gain-of function |
| title_fullStr | Case report: Myocarditis in congenital STAT1 gain-of function |
| title_full_unstemmed | Case report: Myocarditis in congenital STAT1 gain-of function |
| title_short | Case report: Myocarditis in congenital STAT1 gain-of function |
| title_sort | case report myocarditis in congenital stat1 gain of function |
| topic | primary immunodeficiencies STAT1 GOF myocarditis infectious susceptibility chronic mucocutaneous candidiasis |
| url | https://www.frontiersin.org/articles/10.3389/fimmu.2023.1095595/full |
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