ArticleBMC pediatrics2014
Clinical and mutational features of Vietnamese children with X-linked agammaglobulinemia.
Article in BMC pediatrics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 papers.
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Who cites it
6 citing papers in PubMed, 10 citations in OpenAlex.
- Clinical and genetic characterization of X-linked agammaglobulinemia in a Colombian cohort.The World Allergy Organization journal · 2026Article
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- The first successful bone marrow transplantation in Vietnam for a young Vietnamese boy with chronic granulomatous disease: a case report.Frontiers in immunology · 2023Article
- Unusual manifestations of visceral leishmaniasis in children: a case series and its spatial dispersion in the western region of São Paulo state, Brazil.BMC infectious diseases · 2019Article
- NovelCase reports in pediatrics · 2018Article
- Severe congenital neutropenia caused by the ELANE gene mutation in a Vietnamese boy with misdiagnosis of tuberculosis and autoimmune neutropenia: a case report.BMC hematology · 2015Article
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Authors and funding
8 authors at 4 institutions in 2 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
backgroundX-linked agammaglobulinemia (XLA) is a primary immune deficiency characterized by recurrent bacterial infections and profoundly depressed serum immunoglobulin levels and circulating mature B cells. It is caused by mutations of the Bruton tyrosine kinase (BTK) gene and is the most common form of inherited antibody deficiency. To our knowledge, this is the first report of XLA from Vietnam.
methodsWe investigated the BTK gene mutations and clinical features of four unrelated Vietnamese children.
resultsThe mean ages at onset and at diagnosis were 2.5 and 8 years, respectively. All patients had a medical history of otitis media, pneumonia, and septicemia at the time of diagnosis. Other infections reported included sinusitis, bronchiectasis, arthritis, skin infections, meningitis, and recurrent diarrhea. We identified one previously reported mutation (c.441G >A) and three novel mutations: two frameshifts (c.1770delG and c.1742 delG), and one nonsense (c.1249A >T).
conclusionsThe delayed diagnosis may be attributable to insufficient awareness of this rare disease on the background of frequent infections even in the immunocompetent pediatric population in Vietnam. Our results further support the importance of molecular genetic testing in diagnosis of XLA.
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