A novel ZNF699 mutation in a patient with DEGCAGS syndrome and severe B cell depletion.
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.
Authors
Giardino Giardino, Romano Romano, Squeo Squeo, Toriello Toriello, De Rosa De Rosa, Ammendola Ammendola, Gemma Gemma, Rzasa Rzasa, Kerkhof Kerkhof, di Venere di Venere, Cantelli Cantelli, Cirillo Cirillo, Nigro Nigro, Sadikovic Sadikovic, Pignata Pignata, Merla Merla
View on Pubmed