Detection of a novel nonsense mutation in the interleukin 2 receptor gamma gene causing X-linked severe combined immunodeficiency. American College of Allergy, Asthma, & Immunology

摘要

X-linked severe combined immunodeficiency (X-SCID) is characterized by the absence of T and NK cells with preserved B cells (T- B+ NK- SCID). X-SCID is caused by deficiency of the common y chain of the interleukin 2 receptor due to mutations in IL2RG? We have identified a novel mutation in IL2RG responsible for X-SCID. The patient presented at the age of 5 months with severe respiratory syncytial virus infection, with a history of chronic oral candidiasis and progressive respiratory decompensation associated with failure to thrive.