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Author

Tiphanie P. Vogel

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Open access Sep 2026

Defining the Genetic and Phenotypic Landscape of Primary Immune Regulatory Disorders Using the ClinGen Validation Framework

The PIRD-GCEP framework provides validated gene-disease classifications and identifies three distinct phenotypic clusters, facilitating improved diagnosis while revealing genes requiring further investigation to confirm their role in immune regulatory disorders.

B. Solomon, J. Ross, E. Fensterle et al. · 0 citations
Open access Sep 2026

Impaired regulation by purinergic signaling axis contributes to CD8+ T cell dysregulation in STAT3 gain of function

It is found that in patients with STAT3 GOF, CD8+ T cells exist in an activated state and a dysregulated purinergic signaling axis plays a key role in CD8+ T cell dysregulation in STAT3 GOF and may have implications for other rare monogenic immune disorders and common inflammatory disorders.

Jose S. Campos Duran, Montana Knight, Samir U. Sayed et al. · 0 citations

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