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[Preprint]. 2022 Mar 24:2022.03.23.485509. [Version 1] doi: 10.1101/2022.03.23.485509

Figure 5. PhIP-Seq screening in IPEX and RAG1/2 deficiency reveals novel, intestinally expressed autoantigens BEST4 and BTNL8.

Figure 5.

A) PhIP-Seq heatmap of most frequent shared antigens among IPEX, with color indicating z-score relative to a cohort of non-IPEX controls. B) Radioligand binding assay for BTNL8 reveals additional anti-BTNL8 positive IPEX patients (top). Radioligand binding assay for BEST4 autoantibodies correlates well with PhIP-Seq data (bottom). C) PhIP-Seq screen of patients with hypomorphic mutations in RAG1/2 reveals 2 patients with anti-BEST4 signal. D) Orthogonal radioligand binding assay validation of anti-BEST4 antibodies in both PhIP-Seq anti-BEST4 positive patients.