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pmid: 11472359
X‐linked agammaglobulinaemia (XLA) is a primary immunodeficiency caused by mutations in the gene coding for Bruton's tyrosine kinase (Btk) and is characterized by an arrest of B‐cell development. We analysed Btk protein expression in platelets using flow cytometry and found that normal platelets express large amounts of Btk. Assessment of affected males from 45 unrelated XLA families revealed that platelets of the majority of the patients (37 out of 45 families) had decreased or absent Btk expression, and that platelets from carrier females of these families had both normal and mutated Btk expression, indicating that megakaryocytes in XLA carriers undergo random X‐chromosome inactivation. These observations demonstrate that Btk is not crucial for maturation of megakaryocytes and the production of platelets. No correlation between Btk expression in platelets and clinical phenotype was observed in this study. Flow cytometric evaluation using platelets is a simple and rapid method to test Btk expression. It may be used as a screening test for XLA and for carrier detection, followed, if necessary, by more expensive mutation analyses.
Blood Platelets, Male, Genetic Carrier Screening, Immunoblotting, DNA Methylation, Protein-Tyrosine Kinases, Flow Cytometry, Agammaglobulinemia, Receptors, Androgen, Dosage Compensation, Genetic, Agammaglobulinaemia Tyrosine Kinase, Humans, Female, Biomarkers
Blood Platelets, Male, Genetic Carrier Screening, Immunoblotting, DNA Methylation, Protein-Tyrosine Kinases, Flow Cytometry, Agammaglobulinemia, Receptors, Androgen, Dosage Compensation, Genetic, Agammaglobulinaemia Tyrosine Kinase, Humans, Female, Biomarkers
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influence This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically). | Top 10% | |
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