IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature

Atypical X-linked severe combined immunodeficiency (X-SCID) is a variant of cellular immunodeficiency due to hypomorphic mutations in the interleukin 2 receptor gamma (IL2RG) gene. Due to a leaky clinical phenoty...

http://bit.ly/2Qre2J4