We report the first detailed immunological characterization of a DEGCAGS patient, showing that biallelic ZNF699 loss-of-function variants can cause syndromic combined immunodeficiency and that DNA methylation profiling improves diagnostic precision in selected inborn errors of immunity.
A novel ZNF699 mutation in a patient with DEGCAGS syndrome and severe B cell depletion
De Rosa, Antonio;Cantelli, Mariateresa;Nigro, Vincenzo;
2026
Abstract
We report the first detailed immunological characterization of a DEGCAGS patient, showing that biallelic ZNF699 loss-of-function variants can cause syndromic combined immunodeficiency and that DNA methylation profiling improves diagnostic precision in selected inborn errors of immunity.File in questo prodotto:
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