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

João F Neves, Catarina Martins, Ana I Cordeiro, Conceição Neves, Vicent Plagnol, James Curtis, Monique Fabre, Shahnaz Bibi, Luis M Borrego, Despina Moshous, Sergey Nejentsev, Kimberly Gilmour

Research output: Contribution to journalArticleAcademicpeer-review

4 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)328-333
JournalJournal of Pediatric Hematology / Oncology
Issue number4
Early online date22 Jun 2018
Publication statusPublished - 1 May 2019
Externally publishedYes

Cite this