Somatic and germline FOXP3 mosaicism in the mother of a boy with IPEX syndrome.

Yunting LinAijing XuChunhua ZengJing ChengNa LiHuilin NiuLi LiuXiuzhen Li

Published in: European journal of immunology (2018)

Confirmatory Sanger sequencing of whole exome sequencing first identified a somatic and germline FOXP3 mosaicism with two different mutational events of c.210 + 1G > T and c.210 + 1G > A in the mother of a boy with IPEX syndrome.

Keyphrases

regulatory t cells
dna repair
case report
copy number
dendritic cells
oxidative stress
dna damage