SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports
Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations. Patient 1, a 16-year-old male from Guinea, presented w...
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| Format: | Article |
| Language: | English |
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Frontiers Media S.A.
2025-01-01
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| Series: | Frontiers in Pediatrics |
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| Online Access: | https://www.frontiersin.org/articles/10.3389/fped.2024.1516017/full |
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| author | Kajetan Trojovsky Maximilian Seidl Florian Babor Stephan Ehl Stephan Ehl Min Ae Lee-Kirsch Michael Friedt Hans-Juergen Laws Nibras Naami Prasad Thomas Oommen Sujal Ghosh |
| author_facet | Kajetan Trojovsky Maximilian Seidl Florian Babor Stephan Ehl Stephan Ehl Min Ae Lee-Kirsch Michael Friedt Hans-Juergen Laws Nibras Naami Prasad Thomas Oommen Sujal Ghosh |
| author_sort | Kajetan Trojovsky |
| collection | DOAJ |
| description | Suppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations. Patient 1, a 16-year-old male from Guinea, presented with Evans Syndrome, musculoskeletal pain and elevated liver enzymes. Patient 2, a 6-year-old German boy, developed recurrent oral aphthous ulcers, mild inflammatory bowel disease and chronic recurrent multifocal osteomyelitis. Both patients were diagnosed with SOCS1 deficiency by genetic testing. Treatment strategies included steroids, JAK inhibition and colchicine. These cases emphasize the importance of considering SOCS1 deficiency in patients with autoimmune or autoinflammatory diseases but also in patients with unexplained elevated IgE levels. They highlight the need for further research in ongoing multicenter registries to better understand this condition. |
| format | Article |
| id | doaj-art-16b87a5c632a4d9cb9852cd42bb831f8 |
| institution | Kabale University |
| issn | 2296-2360 |
| language | English |
| publishDate | 2025-01-01 |
| publisher | Frontiers Media S.A. |
| record_format | Article |
| series | Frontiers in Pediatrics |
| spelling | doaj-art-16b87a5c632a4d9cb9852cd42bb831f82025-01-07T06:40:48ZengFrontiers Media S.A.Frontiers in Pediatrics2296-23602025-01-011210.3389/fped.2024.15160171516017SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reportsKajetan Trojovsky0Maximilian Seidl1Florian Babor2Stephan Ehl3Stephan Ehl4Min Ae Lee-Kirsch5Michael Friedt6Hans-Juergen Laws7Nibras Naami8Prasad Thomas Oommen9Sujal Ghosh10Department of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, GermanyInstitute of Pathology, Heinrich Heine University and University Hospital of Duesseldorf, Duesseldorf, GermanyDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, GermanyCenter for Chronic Immunodeficiency, Faculty of Medicine, University of Freiburg, Freiburg, GermanyCenter for Pediatrics and Adolescent Medicine, Medical Center, Faculty of Medicine, University of Freiburg, Freiburg, GermanyDepartment of Pediatrics, Medizinische Fakultät Carl Gustav Carus, Technische Universität Dresden, Dresden, GermanyDepartment of General Pediatrics, Neonatology and Pediatric Cardiology, Division of Pediatric Gastroenterology, Heinrich-Heine-University and University Hospital, Duesseldorf, GermanyDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, GermanyDepartment of Pediatric Oncology and Hematology Herdecke, University Hospital Witten/Herdecke, Herdecke, GermanyDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, GermanyDepartment of Pediatric Oncology, Hematology and Clinical Immunology, Medical Faculty, Center of Child and Adolescent Health, Heinrich-Heine-University and University Hospital, Duesseldorf, GermanySuppressors of cytokine signaling (SOCS) proteins play a critical role in regulating immune signaling pathways. Deficiency of SOCS1 leads to various autoimmune pathologies. We present two unrelated patients with distinct clinical manifestations. Patient 1, a 16-year-old male from Guinea, presented with Evans Syndrome, musculoskeletal pain and elevated liver enzymes. Patient 2, a 6-year-old German boy, developed recurrent oral aphthous ulcers, mild inflammatory bowel disease and chronic recurrent multifocal osteomyelitis. Both patients were diagnosed with SOCS1 deficiency by genetic testing. Treatment strategies included steroids, JAK inhibition and colchicine. These cases emphasize the importance of considering SOCS1 deficiency in patients with autoimmune or autoinflammatory diseases but also in patients with unexplained elevated IgE levels. They highlight the need for further research in ongoing multicenter registries to better understand this condition.https://www.frontiersin.org/articles/10.3389/fped.2024.1516017/fullSOCS1SOCS1 haploinsufficiencySOCS1 deficiencyCRMOCNOautoinflammation |
| spellingShingle | Kajetan Trojovsky Maximilian Seidl Florian Babor Stephan Ehl Stephan Ehl Min Ae Lee-Kirsch Michael Friedt Hans-Juergen Laws Nibras Naami Prasad Thomas Oommen Sujal Ghosh SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports Frontiers in Pediatrics SOCS1 SOCS1 haploinsufficiency SOCS1 deficiency CRMO CNO autoinflammation |
| title | SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports |
| title_full | SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports |
| title_fullStr | SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports |
| title_full_unstemmed | SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports |
| title_short | SOCS1 deficiency—crossroads of autoimmunity and autoinflammation—two case reports |
| title_sort | socs1 deficiency crossroads of autoimmunity and autoinflammation two case reports |
| topic | SOCS1 SOCS1 haploinsufficiency SOCS1 deficiency CRMO CNO autoinflammation |
| url | https://www.frontiersin.org/articles/10.3389/fped.2024.1516017/full |
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