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...
Saved in:
| Main Authors: | , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Discover STM Publishing Ltd
2024-02-01
|
| Series: | Journal of Biochemical and Clinical Genetics |
| Subjects: | |
| Online Access: | https://www.jbcgenetics.com/?mno=220420 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| Summary: | 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] |
|---|---|
| ISSN: | 1658-807X 1658-8088 |