immune system diseases

Researchers provided genetic diagnoses for about 68 percent of their primary antibody deficiency cohort, which altered clinical management in about half of them.

Using a mass cytometry method called EpiTOF, researchers profiled histone modifications and variants in a range of immune cell types across individuals of different ages.

In analyses of multiple traits and diseases, investigators uncovered loss-of-function or truncating changes with apparent protective effects.

A curation working group established a framework that considers the nature and strength of the available evidence when evaluating gene-disease associations.

The collaborators are each providing funding and samples, and plan to study about 100 patients with a subset of Castleman disease to identify biomarkers.

With tens of thousands of immune cell measurements for almost 500 individuals, researchers saw enhanced genetic influence over some adaptive immune traits.

The team identified gene expression patterns that can determine how severe a patient's systemic sclerosis is and if treatment has been effective.