Associated Papers
Domain mapping of disease mutations reveals pathogenic SORL1 variants in Alzheimer's disease.
Andersen OM et al.
Molecular Neurodegeneration, 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
Preimplantation genetic testing for four families with severe combined immunodeficiency: Three unaffected livebirths.
Zhang L et al.
Orphanet Journal of Rare Diseases, 2025
Multi-center implementation of rapid whole genome sequencing provides additional evidence of its utility in the pediatric inpatient setting.
Thompson L et al.
Frontiers in Pediatrics, 2024
A genome sequencing system for universal newborn screening, diagnosis, and precision medicine for severe genetic diseases.
Kingsmore SF et al.
American Journal of Human Genetics, 2022
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
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
Mutation Edgotype Drives Fitness Effect in Human.
Ghadie M et al.
Frontiers in Bioinformatics, 2021
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
Clinical, Immunological, and Molecular Features of Severe Combined Immune Deficiency: A Multi-Institutional Experience From India.
Vignesh P et al.
Frontiers in Immunology, 2020
Estimating dispensable content in the human interactome.
Ghadie M et al.
Nature Communications, 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
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
[Clinical advance of atypical severe combined immunodeficiency].
Du H et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 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
Clinical characteristics and mutation analysis of X-linked severe combined immunodeficiency in China.
Zhang C et al.
World Journal of Pediatrics : Wjp, 2013
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
Molecular diagnosis of severe combined immunodeficiency--identification of IL2RG, JAK3, IL7R, DCLRE1C, RAG1, and RAG2 mutations in a cohort of Chinese and Southeast Asian children.
Lee PP et al.
Journal of Clinical Immunology, 2011
[A compound heterozygosity mutation in the interleukin-7 receptor-alpha gene resulted in severe combined immunodeficiency in a Chinese patient].
Zhang ZY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2009
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
Clinical, Laboratory, and Molecular Findings for 63 Patients With Severe Combined Immunodeficiency: A Decade´s Experience.
Fazlollahi MR et al.
Journal of Investigational Allergology & Clinical Immunology, 0