Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation

We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TlowB+NK+ SCID with delayed onset, moderate susceptibility to infections, and nodular regenerative hyperplasia. He presents with preserved STAT5 tyrosine phosphorylation in response to IL-15 stimulation but not in response to IL-2 and IL-7, resulting in the NK+ phenotype.
Source: Journal of Pediatric Hematology Oncology - Category: Hematology Tags: Clinical and Laboratory Observations Source Type: research