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

• Autor(a) principal: Neves, JF
• Data de Publicação: 2019
• Outros Autores: Martins, C, Cordeiro, AI, Neves, C, Plagnol, V, Curtis, J, Fabre, M, Bibi, S, Borrego, LM, Moshous, D, Nejentsev, S, Gilmour, K
• Tipo de documento: Artigo
• Idioma: eng
• Título da fonte: Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)
• Texto Completo: http://hdl.handle.net/10400.17/3710
• topic: 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

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.