TY - JOUR AU - Lim, Che Kang AU - Abolhassani, Hassan AU - Appelberg, Sofia K. AU - Sundin, Mikael AU - Hammarström, Lennart PY - 2019 DA - 2019/01/05 TI - IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature JO - Allergy, Asthma & Clinical Immunology SP - 2 VL - 15 IS - 1 AB - 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 phenotype, diagnosis and appropriate treatment are challenging in these patients. SN - 1710-1492 UR - https://doi.org/10.1186/s13223-018-0317-y DO - 10.1186/s13223-018-0317-y ID - Lim2019 ER -