Associated Papers
Whole Genome Sequencing in 25 Families with Suspected Inborn Errors of Immunity: Diagnostic Yield and Clinical Relevance of Genome-wide Analysis.
Lee JK et al.
Journal of Clinical Immunology, 2025
A novel hypomorphic mutation in IL2RG associated with severe interstitial lung disease.
Liu H et al.
The Journal of Allergy and Clinical Immunology. Global, 2025
A Novel R140S γc Variant Alters Cellular Distribution, Reduces Surface Expression, and Impairs Cytokine Signaling in Atypical X-SCID.
Dong L et al.
Journal of Clinical Immunology, 2025
Preclinical ex vivo IL2RG gene therapy using autologous hematopoietic stem cells as an effective and safe treatment for X-linked severe combined immunodeficiency disease.
Hu M et al.
Genes & Diseases, 2025
Functional insights of an uncommon hypomorphic variant in IL2RG as a monogenic cause of CVID-like disease with antibody deficiency and T CD4 lymphopenia.
González-Torbay A et al.
Frontiers in Immunology, 2025
Clinical characteristics and genetic features of 35 cases of adverse reactions to Bacillus Calmette-Guérin vaccine in children.
Chen H et al.
Frontiers in Cellular and Infection Microbiology, 2025
Novel Missense DNA Variants in the IL2RG Gene Identified in Slovak X-linked Severe Combined Immunodeficiency Disease Patients: A Case Report.
Krasnanska G et al.
Cureus, 2024
A novel X-linked mutation in IL2RG associated with early-onset inflammatory bowel disease: a case report of twin brothers.
Rayzan E et al.
Journal of Medical Case Reports, 2023
SCID and Other Inborn Errors of Immunity with Low TRECs - the Brazilian Experience.
Barreiros LA et al.
Journal of Clinical Immunology, 2022
Are transient protein-protein interactions more dispensable?
Ghadie MA et al.
Plos Computational Biology, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
The effect of mutatio-type on proteo-phenotype and clinico-phenotype in selected primary immunodeficiencies.
Halacli SO
Immunologic Research, 2022
The expansion of human T-bethighCD21low B cells is T cell dependent.
Keller B et al.
Science Immunology, 2021
A Case of Severe Combined Immunodeficiency Missed by Newborn Screening.
Kitcharoensakkul M et al.
Journal of Clinical Immunology, 2021
Molecular requirements for human lymphopoiesis as defined by inborn errors of immunity.
Della Mina E et al.
Stem Cells (dayton, Ohio), 2021
Selected Abstracts from the 12th Annual Meeting of the Clinical Immunology Society: 2021 Virtual Annual Meeting: Immune Deficiency and Dysregulation North American Conference.
Unknown Author
Journal of Clinical Immunology, 2021
Primary Immunodeficiencies in India: Molecular Diagnosis and the Role of Next-Generation Sequencing.
Arunachalam AK et al.
Journal of Clinical Immunology, 2021
Bacillus Calmette-Guerin (BCG) Vaccine-associated Complications in Immunodeficient Patients Following Stem Cell Transplantation.
NaserEddin A et al.
Journal of Clinical Immunology, 2021
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B et al.
Frontiers in Immunology, 2021
Partial T cell defects and expanded CD56bright NK cells in an SCID patient carrying hypomorphic mutation in the IL2RG gene.
Cifaldi C et al.
Journal of Leukocyte Biology, 2020
The IL-2RG R328X nonsense mutation allows partial STAT-5 phosphorylation and defines a critical region involved in the leaky-SCID phenotype.
Arcas-García A et al.
Clinical and Experimental Immunology, 2020
Novel Hemizygous IL2RG p.(Pro58Ser) Mutation Impairs IL-2 Receptor Complex Expression on Lymphocytes Causing X-Linked Combined Immunodeficiency.
Tuovinen EA et al.
Journal of Clinical Immunology, 2020
Intact B-Cell Signaling and Function With Host B-Cells 47 Years After Transplantation for X-SCID.
Deal C et al.
Frontiers in Immunology, 2020
Rapid Low-Cost Microarray-Based Genotyping for Genetic Screening in Primary Immunodeficiency.
Suratannon N et al.
Frontiers in Immunology, 2020
An Initial Survey of the Performances of Exome Variant Analysis and Clinical Reporting Among Diagnostic Laboratories in China.
Zhang K et al.
Frontiers in Genetics, 2020
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
A synonymous splice site mutation in IL2RG gene causes late-onset combined immunodeficiency.
Yamashita M et al.
International Journal of Hematology, 2019
Newborn screening for severe combined immunodeficiency and T-cell lymphopenia.
Puck JM
Immunological Reviews, 2019
IL2RG hypomorphic mutation: identification of a novel pathogenic mutation in exon 8 and a review of the literature.
Lim CK et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2019
Targeted NGS Platforms for Genetic Screening and Gene Discovery in Primary Immunodeficiencies.
Cifaldi C et al.
Frontiers in Immunology, 2019
Clinical, Immunological, and Molecular Features of Typical and Atypical Severe Combined Immunodeficiency: Report of the Italian Primary Immunodeficiency Network.
Cirillo E et al.
Frontiers in Immunology, 2019
T+ NK+ IL-2 Receptor γ Chain Mutation: a Challenging Diagnosis of Atypical Severe Combined Immunodeficiency.
Stepensky P et al.
Journal of Clinical Immunology, 2018
A prospective study on the natural history of patients with profound combined immunodeficiency: An interim analysis.
Speckmann C et al.
The Journal of Allergy and Clinical Immunology, 2017
Family History of Early Infant Death Correlates with Earlier Age at Diagnosis But Not Shorter Time to Diagnosis for Severe Combined Immunodeficiency.
Luk ADW et al.
Frontiers in Immunology, 2017
Newborn screening for SCID: where are we now?
Buelow BJ et al.
Expert Review of Clinical Immunology, 2014
Patients with T⁺/low NK⁺ IL-2 receptor γ chain deficiency have differentially-impaired cytokine signaling resulting in severe combined immunodeficiency.
Fuchs S et al.
European Journal of Immunology, 2014
Defining combined immunodeficiency.
Roifman CM et al.
The Journal of Allergy and Clinical Immunology, 2012
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
Long-term persistence of a polyclonal T cell repertoire after gene therapy for X-linked severe combined immunodeficiency.
Gaspar HB et al.
Science Translational Medicine, 2011
Thymus microenvironment in human primary immunodeficiency diseases.
Poliani PL et al.
Current Opinion in Allergy and Clinical Immunology, 2009
Early defects in human T-cell development severely affect distribution and maturation of thymic stromal cells: possible implications for the pathophysiology of Omenn syndrome.
Poliani PL et al.
Blood, 2009
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
Clinical and immunologic consequences of a somatic reversion in a patient with X-linked severe combined immunodeficiency.
Speckmann C et al.
Blood, 2008
Mutations causing severe combined immunodeficiency: detection with a custom resequencing microarray.
Lebet T et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2008
Severe combined immunodeficiencies of the common gamma-chain/JAK3 signaling pathway.
Schumacher RF et al.
The Israel Medical Association Journal : Imaj, 2002
Of genes and phenotypes: the immunological and molecular spectrum of combined immune deficiency. Defects of the gamma(c)-JAK3 signaling pathway as a model.
Notarangelo LD et al.
Immunological Reviews, 2000
Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway.
Candotti F et al.
Springer Seminars in Immunopathology, 1998
An interleukin-2 receptor gamma chain mutation with normal thymus morphology.
Sharfe N et al.
The Journal of Clinical Investigation, 1997