Associated Papers
A scalable approach to resolving variants of uncertain significance.
Tejura M et al.
Biorxiv : the Preprint Server for Biology, 2026
X-linked severe combined immunodeficiency complicated by disseminated bacillus Calmette-Guérin disease caused by a novel pathogenic mutation in exon 3 of the IL2RG gene: a case report and literature review.
Jiang C et al.
Frontiers in Immunology, 2024
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J et al.
Frontiers in Immunology, 2022
Features of Hemophagocytic Lymphohistiocytosis in Infants With Severe Combined Immunodeficiency: Our Experience From Chandigarh, North India.
Vignesh P et al.
Frontiers in Immunology, 2022
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
Hemophagocytic syndrome associated with Mycobacterium bovis in a patient with X-SCID: a case report.
Shi B et al.
Bmc Infectious Diseases, 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Kwon WK et al.
Allergy, Asthma & Immunology Research, 2020
A Decade Experience on Severe Combined Immunodeficiency Phenotype in Oman, Bridging to Newborn Screening.
Al Sukaiti N et al.
Frontiers in Immunology, 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
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
A modified γ-retrovirus vector for X-linked severe combined immunodeficiency.
Hacein-Bey-Abina S et al.
The New England Journal of Medicine, 2014
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS.
Kerfoot SA et al.
Proteomics. Clinical Applications, 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
Listening to silence and understanding nonsense: exonic mutations that affect splicing.
Cartegni L et al.
Nature Reviews. Genetics, 2002
Characterization of the gammac chain among 27 unrelated Japanese patients with X-linked severe combined immunodeficiency (X-SCID).
Kumaki S et al.
Human Genetics, 2000
A G to A transition at the last nucleotide of exon 6 of the gamma c gene (868G-->A) may result in either a splice or missense mutation in patients with X-linked severe combined immunodeficiency.
Kanai N et al.
Human Genetics, 1999
Mutations in the gene for the common gamma chain (gammac) in X-linked severe combined immunodeficiency.
Fugmann SD et al.
Human Genetics, 1998
Severe combined immune deficiencies due to defects of the common gamma chain-JAK3 signaling pathway.
Candotti F et al.
Springer Seminars in Immunopathology, 1998
Carrier and prenatal diagnosis of X-linked severe combined immunodeficiency: mutation detection methods and utilization.
Puck JM et al.
Human Genetics, 1997
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0