Article
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation.
Journal of pediatric hematology/oncology - 1 May 2019
Neves João F, Martins Catarina, Cordeiro Ana I, Neves Conceição, Plagnol Vicent, Curtis James, Fabre Monique, Bibi Shahnaz, Borrego Luis M, Moshous Despina, Nejentsev Sergey, Gilmour Kimberly
Abstract excerpt
X-linked severe combined immunodeficiency disease (SCID) is caused by mutations in the interleukin (IL)-2 receptor γ (IL2RG) gene and patients usually present with a TBNK SCID phenotype. Nevertheless, a minority of these patients present with a TBNK phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RG gene presenting with a leaky TBNK SCID...
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