Associated Papers
Next-generation Sequencing and Other Second Tier Tests in Newborn Screening for (X-linked) Agammaglobulinemia.
Blom M et al.
Journal of Clinical Immunology, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.
Chear CT et al.
Frontiers in Immunology, 2023
Inactivating BTK mutations in large B-cell lymphoma in a real-world cohort: Strong correlation with BCL2 translocation.
Schejbel L et al.
Ejhaem, 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
National external quality assessment for next-generation sequencing-based diagnostics of primary immunodeficiencies.
Elsink K et al.
European Journal of Human Genetics : Ejhg, 2021
Genetic screening of male patients with primary hypogammaglobulinemia can guide diagnosis and clinical management.
Vince N et al.
Human Immunology, 2018
Systematic analysis of splicing defects in selected primary immunodeficiencies-related genes.
Grodecká L et al.
Clinical Immunology (orlando, Fla.), 2017
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
Tryptic peptide screening for primary immunodeficiency disease by LC/MS-MS.
Kerfoot SA et al.
Proteomics. Clinical Applications, 2012
Atypical case of X-linked agammaglobulinemia diagnosed at 45 years of age.
Fujioka T et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2011
Clinical and mutational characteristics of X-linked agammaglobulinemia and its carrier identified by flow cytometric assessment combined with genetic analysis.
Kanegane H et al.
The Journal of Allergy and Clinical Immunology, 2001
Early and prolonged intravenous immunoglobulin replacement therapy in childhood agammaglobulinemia: a retrospective survey of 31 patients.
Quartier P et al.
The Journal of Pediatrics, 1999
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course.
Holinski-Feder E et al.
Pediatrics, 1998
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovský I et al.
Human Molecular Genetics, 1995
Clinical and genetic profiles of patients with X-linked agammaglobulinemia from southeast Turkey: Novel mutations in BTK gene.
Doğruel D et al.
Allergologia Et Immunopathologia, 0