Whole-genome sequencing of a sporadic primary immunodeficiency cohort
(2020)
Journal Article
Cooper, N., Abbs, S., Farmery, J. H., Deevi, S. V., Thaventhiran, J. E., Adhya, Z., …Smith, K. G. C. (2020). Whole-genome sequencing of a sporadic primary immunodeficiency cohort. Nature, 583(7814), 90-95. https://doi.org/10.1038/s41586-020-2265-1
Primary immunodeficiency (PID) is characterized by recurrent and often life-threatening infections, autoimmunity and cancer, and it poses major diagnostic and therapeutic challenges. Although the most severe forms of PID are identified in early child... Read More about Whole-genome sequencing of a sporadic primary immunodeficiency cohort.