ArticleJournal of thoracic disease2016
Bruton's agammaglobulinemia in an adult male due to a novel mutation: a case report.
Article in Journal of thoracic disease, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 4 papers.
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Who cites it
4 citing papers in PubMed, 6 citations in OpenAlex.
- Bruton's Agammaglobulinemia: Case Series and Literature Review From King Fahad Central Hospital, Jizan, Saudi Arabia.The American journal of case reports · 2025Review
- Cytomegalovirus Pneumonia in a Patient with X-Linked Agammaglobulinemia: A Case Report.Medicina (Kaunas, Lithuania) · 2022Article
- Molecular alterations in the integrated diagnosis of pediatric glial and glioneuronal tumors: A single center experience.PloS one · 2022Article
- Mucosal IgA Prevents CommensalFrontiers in immunology · 2020Article
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Authors and funding
12 authors at 3 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
X-linked agammaglobulinemia (XLA) is caused by mutation in the gene coding for Bruton's tyrosine kinase (BTK), which impairs peripheral B cell maturation and hypogammaglobulinemia. In this report, we present a case of XLA in a 22-year-old adult male. Genetic testing revealed a novel mutation located at the conserved region (c.383T>C). The patient had a history of recurrent respiratory tract infection which eventually progressed to chronic type II respiratory failure. Several pathogenic bacteria were isolated on culture of respiratory secretions obtained on bronchoscopy. The patient improved on treatment with antibiotics.
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