| Autor: |
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 |
| Zdroj: |
Journal of Pediatric Hematology / Oncology; May 2019, Vol. 41 Issue: 4 p328-333, 6p |
| Abstrakt: |
Supplemental Digital Content is available in the text.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 T−B+NK−SCID phenotype. Nevertheless, a minority of these patients present with a T−B+NK+phenotype, similar to the IL-7R-deficient patients. We report a patient with a novel missense p.Glu297Gly mutation in the IL2RGgene 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. |
| Databáze: |
Supplemental Index |
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