Associated Papers
Clinical relevant Bruton's X-linked tyrosine kinase deficiency in a female with extreme X-chromosome inactivation.
NoorSaeed SM et al.
Allergy, Asthma, and Clinical Immunology : Official Journal of the Canadian Society of Allergy and Clinical Immunology, 2025
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
CoDIAC: A comprehensive approach for interaction analysis reveals novel insights into SH2 domain function and regulation.
Kandoor A et al.
Biorxiv : the Preprint Server for Biology, 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
A Non-targeted Proteomics Newborn Screening Platform for Inborn Errors of Immunity.
Shibata H et al.
Journal of Clinical Immunology, 2024
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
Pseudomonas aeruginosa sepsis presenting as oral ecthyma gangrenosum in identical twins with Bruton tyrosine kinase gene mutation: Two case reports and review of the literature.
Lin SC et al.
Journal of Microbiology, Immunology, and Infection = Wei Mian Yu Gan Ran Za Zhi, 2020
Flow Cytometry for the Diagnosis of Primary Immunodeficiency Diseases: A Single Center Experience.
Kwon WK et al.
Allergy, Asthma & Immunology Research, 2020
Predominantly Antibody-Deficient Patients With Non-infectious Complications Have Reduced Naive B, Treg, Th17, and Tfh17 Cells.
Edwards ESJ et al.
Frontiers in Immunology, 2019
Delayed diagnosis in X-linked agammaglobulinemia and its relationship to the occurrence of mutations in BTK non-kinase domains.
Carrillo-Tapia E et al.
Expert Review of Clinical 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
Clinical characteristics and outcomes of primary antibody deficiency: a 20-year follow-up study.
Chan HY et al.
Journal of the Formosan Medical Association = Taiwan Yi Zhi, 2014
Phylogenetic Profiles Reveal Structural and Functional Determinants of Lipid-binding.
Hong Y et al.
Journal of Proteomics & Bioinformatics, 2009
Genome wide analysis of pathogenic SH2 domain mutations.
Lappalainen I et al.
Proteins, 2008
Sensorineural hearing loss in primary antibody deficiency disorders.
Berlucchi M et al.
The Journal of Pediatrics, 2008
Naturally occurring Bruton's tyrosine kinase mutations have no dominant negative effect in an X-linked agammaglobulinaemia cellular model.
Pérez de Diego R et al.
Clinical and Experimental Immunology, 2008
Solution structure and phosphopeptide binding of the SH2 domain from the human Bruton's tyrosine kinase.
Huang KC et al.
Journal of Biomolecular Nmr, 2006
Four novel and three recurrent mutations of the BTK gene and pathogenic effects of putative splice mutations.
Wattanasirichaigoon D et al.
Journal of Human Genetics, 2006
A genotype-phenotype correlation study in a group of 54 patients with X-linked agammaglobulinemia.
López-Granados E et al.
The Journal of Allergy and Clinical Immunology, 2005
Kinase activity and XLA phenotypic variability.
Pérez de Diego R et al.
The Journal of Allergy and Clinical Immunology, 2005
Identification of the bruton tyrosine kinase (BTK) gene mutations in 20 Australian families with X-linked agammaglobulinemia (XLA).
Velickovic M et al.
Human Mutation, 2004
Phenotypic variability: clinical presentation between the 6th year and the 60th year in a family with X-linked agammaglobulinemia.
Morwood K et al.
The Journal of Allergy and Clinical Immunology, 2004
BTK: 22 novel and 25 recurrent mutations in European patients with X-linked agammaglobulinemia.
Fiorini M et al.
Human Mutation, 2004
Unimpaired activation of c-Jun NH2-terminal kinase (JNK) 1 upon CD40 stimulation in B cells of patients with X-linked agammaglobulinemia.
Brunner C et al.
Journal of Clinical Immunology, 2002
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
The clinical spectrum of Bruton's agammaglobulinemia.
Stewart DM et al.
Current Allergy and Asthma Reports, 2001
Molecular analysis of Bruton's tyrosine kinase gene in Spain.
Rodríguez MC et al.
Human Mutation, 2001
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
Stability and peptide binding specificity of Btk SH2 domain: molecular basis for X-linked agammaglobulinemia.
Tzeng SR et al.
Protein Science : a Publication of the Protein Society, 2000
[Neutropenia as early manifestation of X-linked agammaglobulinemia. Report on 4 patients].
Plo Rodríguez F et al.
Anales Espanoles De Pediatria, 1999
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 pattern in the Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia.
Vorechovský I et al.
Human Mutation, 1997
Detection of a novel mutation in the SRC homology domain 2 (SH2) of Bruton's tyrosine kinase and direct female carrier evaluation in a family with X-linked agammaglobulinemia.
Schuster V et al.
American Journal of Medical Genetics, 1996
BTKbase, mutation database for X-linked agammaglobulinemia (XLA).
Vihinen M et al.
Nucleic Acids Research, 1996
DNA-based mutation analysis of Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinaemia.
Vorechovský I et al.
Human Molecular Genetics, 1995
[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