Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
A novel pathogenic mutation on Interleukin-7 receptor leading to severe combined immunodeficiency identified with newborn screening and whole exome sequencing.
Liao CY et al.
Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2020