Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation
Autor(a) principal: | |
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Data de Publicação: | 2019 |
Outros Autores: | , , , , , , , , , , |
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 |
Resumo: | 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. |
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Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 PhosphorylationB-LymphocytesChild, PreschoolHumansHyperplasiaInterleukin Receptor Common gamma SubunitInterleukin-15Killer Cells, NaturalMaleMutation, MissensePhenotypePhosphorylationSTAT5 Transcription FactorT-LymphocytesX-Linked Combined Immunodeficiency DiseasesHDE PEDX-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.Wolters Kluwer HealthRepositório do Centro Hospitalar Universitário de Lisboa Central, EPENeves, JFMartins, CCordeiro, AINeves, CPlagnol, VCurtis, JFabre, MBibi, SBorrego, LMMoshous, DNejentsev, SGilmour, K2021-05-27T08:38:36Z20192019-01-01T00:00:00Zinfo:eu-repo/semantics/publishedVersioninfo:eu-repo/semantics/articleapplication/pdfhttp://hdl.handle.net/10400.17/3710engJ Pediatr Hematol Oncol . 2019 May;41(4):328-33310.1097/MPH.0000000000001232info:eu-repo/semantics/openAccessreponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos)instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãoinstacron:RCAAP2023-03-10T09:44:02Zoai:repositorio.chlc.min-saude.pt:10400.17/3710Portal AgregadorONGhttps://www.rcaap.pt/oai/openaireopendoar:71602024-03-19T17:21:01.348924Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informaçãofalse |
dc.title.none.fl_str_mv |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
title |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
spellingShingle |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation Neves, JF 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 |
title_short |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
title_full |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
title_fullStr |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
title_full_unstemmed |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
title_sort |
Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation |
author |
Neves, JF |
author_facet |
Neves, JF Martins, C Cordeiro, AI Neves, C Plagnol, V Curtis, J Fabre, M Bibi, S Borrego, LM Moshous, D Nejentsev, S Gilmour, K |
author_role |
author |
author2 |
Martins, C Cordeiro, AI Neves, C Plagnol, V Curtis, J Fabre, M Bibi, S Borrego, LM Moshous, D Nejentsev, S Gilmour, K |
author2_role |
author author author author author author author author author author author |
dc.contributor.none.fl_str_mv |
Repositório do Centro Hospitalar Universitário de Lisboa Central, EPE |
dc.contributor.author.fl_str_mv |
Neves, JF Martins, C Cordeiro, AI Neves, C Plagnol, V Curtis, J Fabre, M Bibi, S Borrego, LM Moshous, D Nejentsev, S Gilmour, K |
dc.subject.por.fl_str_mv |
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 |
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 |
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. |
publishDate |
2019 |
dc.date.none.fl_str_mv |
2019 2019-01-01T00:00:00Z 2021-05-27T08:38:36Z |
dc.type.status.fl_str_mv |
info:eu-repo/semantics/publishedVersion |
dc.type.driver.fl_str_mv |
info:eu-repo/semantics/article |
format |
article |
status_str |
publishedVersion |
dc.identifier.uri.fl_str_mv |
http://hdl.handle.net/10400.17/3710 |
url |
http://hdl.handle.net/10400.17/3710 |
dc.language.iso.fl_str_mv |
eng |
language |
eng |
dc.relation.none.fl_str_mv |
J Pediatr Hematol Oncol . 2019 May;41(4):328-333 10.1097/MPH.0000000000001232 |
dc.rights.driver.fl_str_mv |
info:eu-repo/semantics/openAccess |
eu_rights_str_mv |
openAccess |
dc.format.none.fl_str_mv |
application/pdf |
dc.publisher.none.fl_str_mv |
Wolters Kluwer Health |
publisher.none.fl_str_mv |
Wolters Kluwer Health |
dc.source.none.fl_str_mv |
reponame:Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) instname:Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação instacron:RCAAP |
instname_str |
Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
instacron_str |
RCAAP |
institution |
RCAAP |
reponame_str |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
collection |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) |
repository.name.fl_str_mv |
Repositório Científico de Acesso Aberto de Portugal (Repositórios Cientìficos) - Agência para a Sociedade do Conhecimento (UMIC) - FCT - Sociedade da Informação |
repository.mail.fl_str_mv |
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1799131306501603328 |