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

05 Jan 2019

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...

Click here to view the full article which appeared in Allergy, Asthma & Clinical Immunology