Author(s):
Neves, JF ; Martins, C ; Cordeiro, AI ; Neves, C ; Plagnol, V ; Curtis, J ; Fabre, M ; Bibi, S ; Borrego, LM ; Moshous, D ; Nejentsev, S ; Gilmour, K
Date: 2019
Persistent ID: http://hdl.handle.net/10400.17/3710
Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
Subject(s): 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
Description
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.
