Caspar I. van der Made

The paper identifies monoallelic PSMB8 variants causing impaired immunoproteasome assembly and a novel PRAAS subtype with immunodeficiency.

This study reanalyzes exome sequencing data from 1,300 IEI patients, finding that systematic reanalysis increases the molecular diagnostic yield from 11.8% to 15.2%.

This study identifies heterozygous gain-of-function STAT6 variants in two patients with severe allergic disease and shows JAK inhibitors reduce the enhanced STAT6 responses.

SUsPECT improves variant annotation by using custom long-read transcriptomes to better predict variant effects in clinical settings.

This study evaluates the diagnostic value of trio-based whole exome sequencing in patients with suspected sporadic inborn errors of immunity, identifying DNVs in immune-related genes and providing functional evidence for FBXW11 mutations.