ArticleJournal of clinical immunology2009
Mutation of the BTK gene and clinical feature of X-linked agammaglobulinemia in mainland China.
Article in Journal of clinical immunology, 2009. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers, 1 of them a synthesis that pooled it.
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Who cites it
18 citing papers in PubMed, 1 synthesis or guideline pooled it, 31 citations in OpenAlex.
- Cancer Trends in Inborn Errors of Immunity: A Systematic Review and Meta-Analysis.Journal of clinical immunology · 2024Pooled it
- Revisiting X-linked agammaglobulinemia.Journal of human immunity · 2025Review
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- Mycoplasma pneumonia in a patient with X-linked agammaglobulinemia.BMC infectious diseases · 2024Article
- Base Editors-Mediated Gene Therapy in Hematopoietic Stem Cells for Hematologic Diseases.Stem cell reviews and reports · 2024Review
- Hemizygous BTK Gene Variant Causing X-Linked Agammaglobulinemia in Two Siblings.Journal of clinical immunology · 2023Article
- Research-based flow cytometry assays for pathogenic assessment in the human B-cell biology of gene variants revealed in the diagnosis of inborn errors of immunity: a Bruton's tyrosine kinase case-study.Frontiers in immunology · 2023Article
- Clinical features and mutational analysis of X-linked agammaglobulinemia patients in Malaysia.Frontiers in immunology · 2023Article
- Uncovering Low-Level Maternal Gonosomal Mosaicism in X-Linked Agammaglobulinemia: Implications for Genetic Counseling.Frontiers in immunology · 2020Article
- Metastatic colorectal cancer and severe hypocalcemia following irinotecan administration in a patient with X-linked agammaglobulinemia: a case report.BMC medical genetics · 2019Article
- Article
- Splice-correction strategies for treatment of X-linked agammaglobulinemia.Current allergy and asthma reports · 2015Review
- A novel Bruton's tyrosine kinase gene (BTK) missense mutation in a Chinese family with X-linked agammaglobulinemia.BMC pediatrics · 2014Article
- Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia.BMC pediatrics · 2014Article
- Gastric adenocarcinoma in the context of X-linked agammaglobulinemia: case report and review of the literature.Journal of clinical immunology · 2014Review
- Clinical features and mutation analysis of X-linked agammaglobulinemia in 20 Chinese patients.World journal of pediatrics : WJP · 2013Article
- Article
- Clinical characteristics and genotype-phenotype correlation in 62 patients with X-linked agammaglobulinemia.Journal of clinical immunology · 2010Article
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Authors and funding
9 authors at 5 institutions in 3 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
introductionX-Linked agammaglobulinemia is a prototypical humoral immunodeficiency with the mutation of the Bruton's tyrosine kinase gene.
methodsWe investigated the gene mutation and clinical features of 30 Chinese X-linked agammaglobulinemia (XLA) patients from 27 families. There were 26 mutations, including 11 novel and 15 recurrent mutations, distributing over the entire gene. The nucleotide and amino acid aberration, 1129C>T(H333Y) and 1196T>A(I355N), in SH2 have not been reported before. Five (I355N, W124R, R520X, I590F, G594E) of the 24 mutations not detected in the mothers receiving gene analysis were determined to be de novo. Two mutations occurred within intronic splice-site sequences (intron5(-2)A>G, intron17(-2)A>T). RESULTS AND DISCUSSION: There are eight mutations in the PH domain, two mutations in the SH3 domain, three mutations in the SH2 domain, one mutation in the TH domain, and other 16 mutations in the TK domain. The mutations of protein domain is most common in TK (53%) domain and then in PH(8%) domain. Missense and nonsense mutations were found equal in 46% of the detected mutations. All of the patients are alive, but one died of liver cancer. Clinical features and serum Igs levels range variedly and were not correlated with genotypes. Our results demonstrated molecular genetic characteristics of XLA in mainland China.
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