A Novel Pathogenic Variant in TRAC Gene Associated with SCID Phenotype: Expanding the Genetic and Clinical Spectrum

Key Points

• The aim is to explore the genetic basis of SCID, focusing on a novel variant in the TRAC gene.
• Identified a novel pathogenic variant in the TRAC gene.
• Analyzed its association with SCID phenotype.
• Reviewed clinical and genetic data of affected individuals.
• A novel TRAC gene variant was found in subjects with SCID.
• Specific mutation sites were linked to disease severity.
• Clinical variability was observed among individuals with the same mutation.