Whole-Exome Sequencing-Based Approach for Germline Mutations in Patients with Inborn Errors of Immunity.

Tsubasa OkanoKohsuke ImaiTakuya NarutoSatoshi OkadaMotoi YamashitaTzu-Wen YehShintaro OnoKeisuke TanakaKeisuke OkamotoKay TanitaKazuaki MatsumotoEtsushi ToyofukuEri Kumaki-MatsumotoMiko OkamuraHiroo UenoSeishi OgawaOsamu OharaMasatoshi TakagiHirokazu KaneganeTomohiro Morio

Published in: Journal of clinical immunology (2020)

Most of the disease-causing germline mutations were located in the known IEI genes which could be predicted using patients' clinical characteristics. These results may be useful when considering appropriate genetic approaches in the clinical setting.

Keyphrases

end stage renal disease
genome wide
ejection fraction
newly diagnosed
dna repair
peritoneal dialysis
emergency department
transcription factor
patient reported