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

2019Journal article Open access
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dc.contributor.authorNeves, JF
dc.contributor.authorMartins, C
dc.contributor.authorCordeiro, AI
dc.contributor.authorNeves, C
dc.contributor.authorPlagnol, V
dc.contributor.authorCurtis, J
dc.contributor.authorFabre, M
dc.contributor.authorBibi, S
dc.contributor.authorBorrego, LM
dc.contributor.authorMoshous, D
dc.contributor.authorNejentsev, S
dc.contributor.authorGilmour, K
dc.date.accessioned2021-05-27T08:38:36Z
dc.date.available2021-05-27T08:38:36Z
dc.date.issued2019
dc.description.abstractX-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.pt_PT
dc.description.versioninfo:eu-repo/semantics/publishedVersionpt_PT
dc.identifier.citationJ Pediatr Hematol Oncol . 2019 May;41(4):328-333pt_PT
dc.identifier.doi10.1097/MPH.0000000000001232pt_PT
dc.identifier.urihttp://hdl.handle.net/10400.17/3710
dc.language.isoengpt_PT
dc.peerreviewedyespt_PT
dc.publisherWolters Kluwer Healthpt_PT
dc.subjectB-Lymphocytespt_PT
dc.subjectChild, Preschoolpt_PT
dc.subjectHumanspt_PT
dc.subjectHyperplasiapt_PT
dc.subjectInterleukin Receptor Common gamma Subunitpt_PT
dc.subjectInterleukin-15pt_PT
dc.subjectKiller Cells, Naturalpt_PT
dc.subjectMalept_PT
dc.subjectMutation, Missensept_PT
dc.subjectPhenotypept_PT
dc.subjectPhosphorylationpt_PT
dc.subjectSTAT5 Transcription Factorpt_PT
dc.subjectT-Lymphocytespt_PT
dc.subjectX-Linked Combined Immunodeficiency Diseasespt_PT
dc.subjectHDE PEDpt_PT
dc.titleNovel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylationpt_PT
dc.typejournal article
dspace.entity.typePublication
oaire.citation.endPage333pt_PT
oaire.citation.issue4pt_PT
oaire.citation.startPage328pt_PT
oaire.citation.titleJournal of pediatric hematology/oncologypt_PT
oaire.citation.volume41pt_PT
rcaap.rightsopenAccesspt_PT
rcaap.typearticlept_PT

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