Interpretation of XIAP Variants of Uncertain Significance in Paediatric Patients with Refractory Crohn's Disease.

Iksoo ChangSeongjun ParkHye-Jin LeeInki KimSojung ParkMi Kyoung AhnJuhwan LeeMooseok KangDong-Cheol WooYoung Hoon SungChan-Gi PackHyo-Jeong KangKunsong LeeHo Joon ImEul Ju SeoKyung Mo KimSuk-Kyun YangKyuyoung SongSeak Hee Oh

Published in: Journal of Crohn's & colitis (2021)

A high prevalence of XIAP deficiency was noted among children with refractory CD. Advanced functional studies decreased the subjectivity in the case-level interpretation of XIAP VUSs and directed consideration of haematopoietic stem cell transplantation.

Keyphrases

stem cell transplantation
high dose
young adults
emergency department
intensive care unit
copy number
low dose
gene expression