ArticleJournal of clinical immunology2002
XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.
Article in Journal of clinical immunology, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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Who cites it
12 citing papers in PubMed, 33 citations in OpenAlex.
- Spectrum of BTK gene mutations in Vietnamese patients with X-linked agammaglobulinemia.Molecular biology reports · 2025Article
- Investigation of a synonymous mutation in Btk in a patient with agammaglobulinemia: A case report.Immunity, inflammation and disease · 2023Article
- Primary Immunodeficiencies: Diseases of Children and Adults - A Review.Advances in experimental medicine and biology · 2021Review
- Distinct Clinical Features and Novel Mutations in Taiwanese Patients With X-Linked Agammaglobulinemia.Frontiers in immunology · 2020Article
- Splice-correction strategies for treatment of X-linked agammaglobulinemia.Current allergy and asthma reports · 2015Review
- Splice site mutations in the ATP7A gene.PloS one · 2011Article
- Correction of B-cell development in Btk-deficient mice using lentiviral vectors with codon-optimized human BTK.Leukemia · 2010Article
- Adult-onset presentations of genetic immunodeficiencies: genes can throw slow curves.Current opinion in infectious diseases · 2010Review
- Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.Journal of clinical immunology · 2009Article
- Common variable immunodeficiency: etiological and treatment issues.International archives of allergy and immunology · 2009Review
- X-linked agammaglobulinemia diagnosed late in life: case report and review of the literature.Clinical and molecular allergy : CMA · 2008Article
- Two patients with complete defects in interferon gamma receptor-dependent signaling.Journal of clinical immunology · 2007Article
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Authors and funding
9 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked agammaglobulinemia is caused by mutations in the BTK gene, which result in a precursor B-cell differentiation arrest in the bone marrow and the absence of or strongly reduced B lymphocytes in blood. We identified a patient with a mild clinical phenotype, low numbers of B lymphocytes, and a splice-site mutation in the BTK gene. The precursor B-cell compartment in the bone marrow of this patient was almost identical to that in healthy children. Using real-time quantitative polymerase chain reaction, we were able to detect low levels of wild-type BTK transcripts in his granulocytes. Therefore, we speculated that wild-type BTK transcripts might be responsible for a milder clinical and immunological phenotype, as has been shown in several other diseases. Consequently, we quantified the expression of wild-type BTK transcripts in granulocytes of eight additional patients with splice-site mutations and compared their phenotypes with 17 patients with other types of BTK mutations. In these eight patients, the presence of low levels of wild-type BTK transcripts did not show a clear correlation with the percentage, absolute number, or immunophenotype of B lymphocytes nor with age or serum immunoglobulin levels at diagnosis. Nevertheless, we postulate that the presence of wild-type BTK transcripts can be one of the many factors that influence the clinical and immunological phenotype in X-linked agammaglobulinemia.
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