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

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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Bibliographic Details
Main Authors: Aslı Guner Ozturk Demir, Akif Ayaz, Muhsin Elmas
Format: Article
Language:English
Published: Discover STM Publishing Ltd 2024-02-01
Series:Journal of Biochemical and Clinical Genetics
Subjects:
syk
systemic inflammation
immunodeficiency
case report
Online Access:https://www.jbcgenetics.com/?mno=220420
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