Associated Papers
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
Targeted Gene Sanger Sequencing Should Remain the First-Tier Genetic Test for Children Suspected to Have the Five Common X-Linked Inborn Errors of Immunity.
Chan KW et al.
Frontiers in Immunology, 2022
Case Report: Interleukin-2 Receptor Common Gamma Chain Defect Presented as a Hyper-IgE Syndrome.
Belaid B et al.
Frontiers in Immunology, 2021
Family-Based Next-Generation Sequencing Study Identifies an IL2RG Variant in an Infant with Primary Immunodeficiency.
Bandari AK et al.
Omics : a Journal of Integrative Biology, 2019
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
Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.
Fugmann SD et al.
Human Genetics, 1998
Select a paper to view details