Novel IL2RG Mutation Causes Leaky TLOWB+NK+ SCID With Nodular Regenerative Hyperplasia and Normal IL-15 STAT5 Phosphorylation-Reference-Cited by-同舟云学术

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

Published:2019-05 Issue:4 Volume:41 Page:328-333
ISSN:1077-4114
Container-title:Journal of Pediatric Hematology/Oncology
language:en
Short-container-title:

Author:

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

Publisher

Ovid Technologies (Wolters Kluwer Health)

Subject

Oncology,Hematology,Pediatrics, Perinatology and Child Health

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1. Characterization of Expanded Gamma Delta T Cells from Atypical X-SCID Patient Reveals Preserved Function and IL2RG-Mediated Signaling;Journal of Clinical Immunology;2022-10-19

2. New clinical aspects of immune dysregulation in atypical severe combined immunodeficiency due to mutations in IL2RG and RAG1;2022-09-06

3. The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies;Immunologic Research;2021-10-07

4. Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency;Journal of Clinical Immunology;2020-02-19

5. The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype;Clinical and Experimental Immunology;2020-01-19