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

João F Neves, Catarina Martins, Ana I Cordeiro, Conceição Neves, Vicent Plagnol, James Curtis, Monique Fabre, Shahnaz Bibi, Luis M Borrego, Despina Moshous, Sergey Nejentsev, Kimberly Gilmour

Research output: Contribution to journalArticleAcademicpeer-review

Abstract

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.

Original languageEnglish
Pages (from-to)328-333
JournalJournal of Pediatric Hematology / Oncology
Volume41
Issue number4
Early online date22 Jun 2018
DOIs
Publication statusPublished - 1 May 2019
Externally publishedYes

Cite this

Neves, João F ; Martins, Catarina ; Cordeiro, Ana I ; Neves, Conceição ; Plagnol, Vicent ; Curtis, James ; Fabre, Monique ; Bibi, Shahnaz ; Borrego, Luis M ; Moshous, Despina ; Nejentsev, Sergey ; Gilmour, Kimberly. / Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation. In: Journal of Pediatric Hematology / Oncology. 2019 ; Vol. 41, No. 4. pp. 328-333.
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title = "Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation",
abstract = "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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Neves, JF, Martins, C, Cordeiro, AI, Neves, C, Plagnol, V, Curtis, J, Fabre, M, Bibi, S, Borrego, LM, Moshous, D, Nejentsev, S & Gilmour, K 2019, 'Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation' Journal of Pediatric Hematology / Oncology, vol. 41, no. 4, pp. 328-333. https://doi.org/10.1097/MPH.0000000000001232

Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation. / Neves, João F; Martins, Catarina; Cordeiro, Ana I; Neves, Conceição; Plagnol, Vicent; Curtis, James; Fabre, Monique; Bibi, Shahnaz; Borrego, Luis M; Moshous, Despina; Nejentsev, Sergey; Gilmour, Kimberly.

In: Journal of Pediatric Hematology / Oncology, Vol. 41, No. 4, 01.05.2019, p. 328-333.

Research output: Contribution to journalArticleAcademicpeer-review

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AU - Martins, Catarina

AU - Cordeiro, Ana I

AU - Neves, Conceição

AU - Plagnol, Vicent

AU - Curtis, James

AU - Fabre, Monique

AU - Bibi, Shahnaz

AU - Borrego, Luis M

AU - Moshous, Despina

AU - Nejentsev, Sergey

AU - Gilmour, Kimberly

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AB - 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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