Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders

@inproceedings{Schouwenburg2015ApplicationOW,
  title={Application of whole genome and RNA sequencing to investigate the genomic landscape of common variable immunodeficiency disorders},
  author={Pauline A van Schouwenburg and Emma E Davenport and Anne-Kathrin Kienzler and Ishita Marwah and Jaqueline C M Witteman and Mary Hardy Lucas and Tomas Malinauskas and Hilary C Martin and Helen E. Lockstone and Jean-Baptiste Cazier and Helen M. Chapel and Julian C. Knight and Smita Y Patel},
  booktitle={Clinical immunology},
  year={2015}
}
Common Variable Immunodeficiency Disorders (CVIDs) are the most prevalent cause of primary antibody failure. CVIDs are highly variable and a genetic causes have been identified in <5% of patients. Here, we performed whole genome sequencing (WGS) of 34 CVID patients (94% sporadic) and combined them with transcriptomic profiling (RNA-sequencing of B cells) from three patients and three healthy controls. We identified variants in CVID disease genes TNFRSF13B, TNFRSF13C, LRBA and NLRP12 and… CONTINUE READING
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