ArticleClinical and experimental immunology2000
Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry.
Article in Clinical and experimental immunology, 2000. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 20 papers.
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Who cites it
20 citing papers in PubMed, 85 citations in OpenAlex.
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- Flow cytometry-based diagnostic approach for inborn errors of immunity: experience from Algeria.Frontiers in immunology · 2024Article
- COVID-19 relapse associated with SARS-CoV-2 evasion from CD4iScience · 2023Article
- Delayed Diagnosis and Complications of Predominantly Antibody Deficiencies in a Cohort of Australian Adults.Frontiers in immunology · 2018Article
- A NovelFrontiers in pediatrics · 2018Article
- 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
- Novel mutations in a Japanese patient with CD19 deficiency.Genes and immunity · 2007Article
- Translational mini-review series on immunodeficiency: molecular defects in common variable immunodeficiency.Clinical and experimental immunology · 2007Review
- Common variable immune deficiency: reviews, continued puzzles, and a new registry.Immunologic research · 2007Review
- Immunodeficiency in childhood.Current allergy and asthma reports · 2006Review
- X-linked agammaglobulinemia diagnosed in adulthood: a case report.International journal of hematology · 2006Article
- Clinical and immunological features of 65 Iranian patients with common variable immunodeficiency.Clinical and diagnostic laboratory immunology · 2005Article
- [Classification and diagnosis of immunodeficiency syndromes].Der Internist · 2004Review
- Identification of an SH2D1A mutation in a hypogammaglobulinemic male patient with a diagnosis of common variable immunodeficiency.International journal of hematology · 2003Article
- XLA patients with BTK splice-site mutations produce low levels of wild-type BTK transcripts.Journal of clinical immunology · 2002Article
- The clinical spectrum of Bruton's agammaglobulinemia.Current allergy and asthma reports · 2001Review
- X-linked lymphoproliferative disease: three atypical cases.Clinical and experimental immunology · 2001Article
- Assessment of male CVID patients for mutations in the Btk gene: how many have been misdiagnosed?Clinical and experimental immunology · 2001Article
- Recurrent pneumonia with mild hypogammaglobulinemia diagnosed as X-linked agammaglobulinemia in adults.Respiratory research · 2001Article
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Authors and funding
10 authors at 4 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
CVID is frequently diagnosed in male and female individuals with hypogammaglobulinaemia of unknown aetiology. To examine the possibility that sporadic male cases with X-linked agammaglobulinaemia (XLA), which is caused by mutations in the Bruton's tyrosine kinase (Btk) gene, might be misregistered as having CVID, we employed a flow cytometric test to identify XLA in hypogammaglobulinaemic males registered as CVID in the Japanese Immunodeficiency Registry. From 30 male cases registered as having CVID between 1992 and 1998, we selected 21 males with low or unreported peripheral B cell counts. Blood samples could be obtained from 11 patients and their mothers. Using flow cytometric analysis, the Btk-deficient status in monocytes was demonstrated in seven out of nine cases with decreased numbers of peripheral B cells. The diagnosis of XLA was confirmed in each of the seven patients by demonstration of Btk gene mutations in the patients or cellular mosaicism in the mother. This study demonstrates misregistration of XLA as CVID.
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