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

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 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.

Keywords

B-Lymphocytes Child, Preschool Humans Hyperplasia Interleukin Receptor Common gamma Subunit Interleukin-15 Killer Cells, Natural Male Mutation, Missense Phenotype Phosphorylation STAT5 Transcription Factor T-Lymphocytes X-Linked Combined Immunodeficiency Diseases HDE PED

URI

http://hdl.handle.net/10400.17/3710

Citation

J Pediatr Hematol Oncol . 2019 May;41(4):328-333

Publisher

Wolters Kluwer Health

DOI

10.1097/MPH.0000000000001232

Collections

PED - Artigos

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