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Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hype...

Neves, JF; Martins, C; Cordeiro, AI; Neves, C; Plagnol, V; Curtis, J; Fabre, M; Bibi, S; Borrego, LM; Moshous, D; Nejentsev, S; Gilmour, K

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 SC...

Date: 2019   |   Origin: Repositório do Centro Hospitalar de Lisboa Central, EPE
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