Associated Papers
Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.
Xinh PT et al.
Molecular Biology Reports, 2025
EBV-Driven HLH and T Cell Lymphoma in a Child with X-Linked Agammaglobulinemia: A Genetically Confirmed Case Report and Literature Review.
Perez-Olais JH et al.
Journal of Personalized Medicine, 2025
Immune Thrombocytopenia in an Adult With X-linked Agammaglobulinemia: A Case Report.
Matsunaga T et al.
Ejhaem, 2025
TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.
Chakrobortty T et al.
Frontiers in Medicine, 2025
Genetic diagnosis of inborn errors of immunity using clinical exome sequencing.
Kwon SS et al.
Frontiers in Immunology, 2023
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
Atypical phenotype? The answer's in the genotype: AGS caused by a novel RNASEH2C variant combined with XLA caused by a BTK deficiency.
Boulanger C et al.
Rheumatology (oxford, England), 2021
Erratum: X-linked agammaglobulinemia: investigation of clinical and laboratory findings, novel gene mutations and prevention of infective complications in long-term follow-up.
Yıldırım İ et al.
American Journal of Clinical and Experimental Immunology, 2021
TREC and KREC profiling as a representative of thymus and bone marrow output in patients with various inborn errors of immunity.
Dasouki M et al.
Clinical and Experimental Immunology, 2020
Clinical and Genetic Profile of X-Linked Agammaglobulinemia: A Multicenter Experience From India.
Rawat A et al.
Frontiers in Immunology, 2020
Validation of Ion TorrentTM Inherited Disease Panel with the PGMTM Sequencing Platform for Rapid and Comprehensive Mutation Detection.
Mustafa AE et al.
Genes, 2018
Clinical and genetic features of the patients with X-Linked agammaglobulinemia from Turkey: Single-centre experience.
Esenboga S et al.
Scandinavian Journal of Immunology, 2018
Dried Blood Spots, an Affordable Tool to Collect, Ship, and Sequence gDNA from Patients with an X-Linked Agammaglobulinemia Phenotype Residing in a Developing Country.
Segundo GRS et al.
Frontiers in Immunology, 2018
Rapid Multiplexed Proteomic Screening for Primary Immunodeficiency Disorders From Dried Blood Spots.
Collins CJ et al.
Frontiers in Immunology, 2018
Clinical characteristics and genetic profiles of 174 patients with X-linked agammaglobulinemia: Report from Shanghai, China (2000-2015).
Chen XF et al.
Medicine, 2016
Cohort of Iranian Patients with Congenital Agammaglobulinemia: Mutation Analysis and Novel Gene Defects.
Abolhassani H et al.
Expert Review of Clinical Immunology, 2016
Comprehensive gene panels provide advantages over clinical exome sequencing for Mendelian diseases.
Unknown Author
Genome Biology, 2015
[X-linked agammaglobulinemia: experience in a Portuguese hospital].
Fernandes A et al.
Anales De Pediatria (barcelona, Spain : 2003), 2015
Bruton tyrosine kinase mediates TLR9-dependent human dendritic cell activation.
Lougaris V et al.
The Journal of Allergy and Clinical Immunology, 2014
Targeted next-generation sequencing: a novel diagnostic tool for primary immunodeficiencies.
Nijman IJ et al.
The Journal of Allergy and Clinical Immunology, 2014
Quantification of κ-deleting recombination excision circles in Guthrie cards for the identification of early B-cell maturation defects.
Nakagawa N et al.
The Journal of Allergy and Clinical Immunology, 2011
Molecular characterization of Bruton's tyrosine kinase deficiency in 12 Iranian patients with presumed X-linked agammaglobulinemia.
Nasseri S et al.
Journal of Investigational Allergology & Clinical Immunology, 2011
Clinical characteristics and molecular analysis of 21 Chinese children with congenital agammaglobulinemia.
Zhang ZY et al.
Scandinavian Journal of Immunology, 2010
[Analysis of mutation in heavy chain-micro (microHC) gene in a Chinese patient with congenital agammaglobulinemia].
Zhang ZY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2010
Clinical and molecular analysis of 49 patients with X-linked agammaglobulinemia from a single center in Argentina.
Basile N et al.
Journal of Clinical Immunology, 2009
Primary B cell immunodeficiencies: comparisons and contrasts.
Conley ME et al.
Annual Review of Immunology, 2009
Genotype-phenotype correlation in Bruton's tyrosine kinase deficiency.
Teimourian S et al.
Journal of Pediatric Hematology/oncology, 2008
Sensorineural hearing loss in primary antibody deficiency disorders.
Berlucchi M et al.
The Journal of Pediatrics, 2008
Clinical, immunological and molecular characteristics of 37 Iranian patients with X-linked agammaglobulinemia.
Aghamohammadi A et al.
International Archives of Allergy and Immunology, 2006
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
Fiorini M et al.
Human Mutation, 2004
Bruton tyrosine kinase gene mutations in Argentina.
Danielian S et al.
Human Mutation, 2003
BTK mutations in patients with X-linked agammaglobulinemia: lack of correlation between presence of peripheral B lymphocytes and specific mutations.
Tao L et al.
Human Mutation, 2000
[Genetic diagnosis of patients with primary agammaglobulinemia treated at third level peruvian centers].
Matos-Benavides E et al.
Revista Peruana De Medicina Experimental Y Salud Publica, 0