What question did this study set out to answer?

This study aims to investigate the heritability and impact of JAK3 and STAT variants on immune response.

January 22, 2026International Journal of Molecular SciencesOpen Access

Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family

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Authors

HLHye Kyung LeeNational Institutes of Health THT. HaikarainenTampere University of Applied Sciences YCYasemin CafVienna Consulting Engineers (Austria)

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Implication

Genetic analysis of JAK3 and STAT variants reveals complex immune transcriptome responses in a family, suggesting implications for understanding genetic influences.

Key Points

This study aims to investigate the heritability and impact of JAK3 and STAT variants on immune response.
Identified rare JAK3 and STAT variants in a Tyrolean family spanning three generations.
Conducted in silico analyses and used AlphaFold 3 for structural predictions.
Analyzed immune transcriptomes of probands carrying the identified genetic variants.
Identified four rare genetic variants inherited without clinical manifestations.
Not all carriers of the same variant exhibited the same immune transcriptome response.
Activated basal transcriptomes were present in some but not all individuals with the variants.

Cite This Study

Lee et al. (2026) studied this question.

synapsesocial.com/papers/6971bdad642b1836717e2665 https://doi.org/10.3390/ijms27020913

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Implication

Genetic analysis of JAK3 and STAT variants reveals complex immune transcriptome responses in a family, suggesting implications for understanding genetic influences.

Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family

Discussion

Member takes

Implication

Key Points

Cite This Study

Heritability and Transcriptional Impact of JAK3, STAT5A and STAT6 Variants in a Tyrolean Family

Discussion

Member takes

Implication

Key Points

Cite This Study

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