A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report
Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to "Immunodeficiency 82 with Systemic In...
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| Format: | Article |
| Language: | English |
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Discover STM Publishing Ltd
2024-02-01
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| Series: | Journal of Biochemical and Clinical Genetics |
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| Online Access: | https://www.jbcgenetics.com/?mno=220420 |
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| author | Aslı Guner Ozturk Demir Akif Ayaz Muhsin Elmas |
| author_facet | Aslı Guner Ozturk Demir Akif Ayaz Muhsin Elmas |
| author_sort | Aslı Guner Ozturk Demir |
| collection | DOAJ |
| description | Background: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to "Immunodeficiency 82 with Systemic Inflammation" (OMIM: 619381), characterized by systemic inflammation and immune dysfunction.
Case Presentation: We report a case of a 9-year-old boy with a newly identified heterozygous mutation in the SYK gene, p.R434Q (c.1301G>A). The patient presented with hypogammaglobulinemia, CD8 deficiency, and immune dysfunction, alongside a history of PFAPA syndrome. Although initial genetic and immunological evaluations were unremarkable, exome sequencing ultimately revealed the novel p.R434Q mutation, which was confirmed through Sanger sequencing.
Conclusion: This case expands the known spectrum of SYK-related disorders and highlights the critical role of genetic testing in the diagnosis and management of immune deficiency syndromes. [JBCGenetics 2024; 7(2.000): 114-117] |
| format | Article |
| id | doaj-art-1763408e86f64408afa8cb293d091ca8 |
| institution | Kabale University |
| issn | 1658-807X 1658-8088 |
| language | English |
| publishDate | 2024-02-01 |
| publisher | Discover STM Publishing Ltd |
| record_format | Article |
| series | Journal of Biochemical and Clinical Genetics |
| spelling | doaj-art-1763408e86f64408afa8cb293d091ca82025-08-20T03:42:18ZengDiscover STM Publishing LtdJournal of Biochemical and Clinical Genetics1658-807X1658-80882024-02-017211411710.24911/JBCGenetics.183-1726230535220420A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case reportAslı Guner Ozturk Demir0Akif Ayaz1Muhsin Elmas2Genetic Diseases Evaluation Center, Istanbul Medipol University, Beykoz, Istanbul, Turkey Genetic Diseases Evaluation Center, Memorial Şişli Hospital, Şişli, Istanbul, Turkey Genetic Diseases Evaluation Center, Istanbul Medipol University, Beykoz, Istanbul, TurkeyBackground: The spleen tyrosine kinase (SYK) gene, located on chromosome 9q22.2, encodes a crucial cytoplasmic non-receptor tyrosine kinase involved in immune cell signaling, particularly in B and T cell receptor pathways. Mutations in SYK are linked to "Immunodeficiency 82 with Systemic Inflammation" (OMIM: 619381), characterized by systemic inflammation and immune dysfunction. Case Presentation: We report a case of a 9-year-old boy with a newly identified heterozygous mutation in the SYK gene, p.R434Q (c.1301G>A). The patient presented with hypogammaglobulinemia, CD8 deficiency, and immune dysfunction, alongside a history of PFAPA syndrome. Although initial genetic and immunological evaluations were unremarkable, exome sequencing ultimately revealed the novel p.R434Q mutation, which was confirmed through Sanger sequencing. Conclusion: This case expands the known spectrum of SYK-related disorders and highlights the critical role of genetic testing in the diagnosis and management of immune deficiency syndromes. [JBCGenetics 2024; 7(2.000): 114-117]https://www.jbcgenetics.com/?mno=220420syksystemic inflammationimmunodeficiencycase report |
| spellingShingle | Aslı Guner Ozturk Demir Akif Ayaz Muhsin Elmas A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report Journal of Biochemical and Clinical Genetics syk systemic inflammation immunodeficiency case report |
| title | A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report |
| title_full | A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report |
| title_fullStr | A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report |
| title_full_unstemmed | A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report |
| title_short | A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency - a case report |
| title_sort | novel heterozygous mutation in the syk gene and systemic inflammation with immunodeficiency a case report |
| topic | syk systemic inflammation immunodeficiency case report |
| url | https://www.jbcgenetics.com/?mno=220420 |
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