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."/>
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Case Report
Online Published: 16 Jan 2025
 


A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report

Aslı Güner Öztürk Demir, Akif Ayaz, Muhsin Elmas.


Abstract
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.

Key words: SYK, Systemic inflammation, Immunodeficiency, case report


 
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Pubmed Style

Demir AGO, Ayaz A, Elmas M. A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. JBCGenetics. Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535

Web Style

Demir AGO, Ayaz A, Elmas M. A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. https://www.jbcgenetics.com/?mno=220420 [Access: January 16, 2025]. doi:10.24911/JBCGenetics.183-1726230535

AMA (American Medical Association) Style

Demir AGO, Ayaz A, Elmas M. A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. JBCGenetics. Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535


Vancouver/ICMJE Style

Demir AGO, Ayaz A, Elmas M. A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. JBCGenetics, [cited January 16, 2025]; Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535


Harvard Style

Demir, A. G. O., Ayaz, . A. & Elmas, . M. (2024) A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. JBCGenetics, Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535


Turabian Style

Demir, Aslı Guner Ozturk, Akif Ayaz, and Muhsin Elmas. 2024. A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. Journal of Biochemical and Clinical Genetics, Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535


Chicago Style

Demir, Aslı Guner Ozturk, Akif Ayaz, and Muhsin Elmas. "A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report." Journal of Biochemical and Clinical Genetics Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535


MLA (The Modern Language Association) Style

Demir, Aslı Guner Ozturk, Akif Ayaz, and Muhsin Elmas. "A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report." Journal of Biochemical and Clinical Genetics Online First: 16 Jan, 2025. Web. 16 Jan 2025 doi:10.24911/JBCGenetics.183-1726230535


APA (American Psychological Association) Style

Demir, A. G. O., Ayaz, . A. & Elmas, . M. (2024) A Novel Heterozygous Mutation in the SYK Gene and Systemic Inflammation with Immunodeficiency – a case report. Journal of Biochemical and Clinical Genetics, Online First: 16 Jan, 2025. doi:10.24911/JBCGenetics.183-1726230535




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