Associated Papers
First 2-year experience of nationwide newborn screening for severe forms of T and B cell immunodeficiency: 2.3 million newborns analyzed using TREC and KREC in Russia.
Marakhonov A et al.
Frontiers in Immunology, 2026
Case Report: Transfusion-associated graft-versus-host disease in severe combined immunodeficiency.
Jiang C et al.
Frontiers in Immunology, 2025
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
Integrated multi-omics for rapid rare disease diagnosis on a national scale.
Lunke S et al.
Nature Medicine, 2023
Metagenomic next-generation sequencing in a diagnosis of Pneumocystis pneumonia in an X-linked immunodeficient child: a case report.
Qing L et al.
Frontiers in Pediatrics, 2023
Challenges in Gene Therapy for Somatic Reverted Mosaicism in X-Linked Combined Immunodeficiency by CRISPR/Cas9 and Prime Editing.
Hou Y et al.
Genes, 2022
Prevalence of monogenic disease in paediatric patients with a predominant respiratory phenotype.
Dai D et al.
Archives of Disease in Childhood, 2022
Global Expansion of Jeffrey's Insights: Jeffrey Modell Foundation's Genetic Sequencing Program for Primary Immunodeficiency.
Quinn J 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
Mutational landscape of severe combined immunodeficiency patients from Turkey.
Firtina S et al.
International Journal of Immunogenetics, 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
Lessons from Genetic Studies of Primary Immunodeficiencies in a Highly Consanguineous Population.
Barbouche MR et al.
Frontiers in 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
Targeted genome editing in human repopulating haematopoietic stem cells.
Genovese P et al.
Nature, 2014
Clinical characteristics and genetic profiles of 44 patients with severe combined immunodeficiency (SCID): report from Shanghai, China (2004-2011).
Yao CM et al.
Journal of Clinical Immunology, 2013
IL-21 is the primary common γ chain-binding cytokine required for human B-cell differentiation in vivo.
Recher M et al.
Blood, 2011
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
Gene therapy of X-linked severe combined immunodeficiency by use of a pseudotyped gammaretroviral vector.
Gaspar HB et al.
Lancet (london, England), 0
Centralized rapid genetic diagnosis of combined immunodeficiency in Japan.
Kato T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 0