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- W3081953931 abstract "X-linked agammaglobulinemia (XLA) is a rare genetic disease caused by a mutation in the Bruton tyrosine kinase (BTK) gene. It is characterized by a profound deficiency of B cells and a decrease in all classes of immunoglobulins (Ig). We report one case in a 3-year-old boy seen for recurrent acute otitis media, perineal abscess, oligoarthritis. The serum immunoglobulin (Ig) assay showed an IgG level of 0.6g/l. IgM and IgA are indosable. Marrow immunophenotyping showed an absence of precursor B less than 1%. Molecular biology confirmed Burton´s disease (stop mutation, C37C) in exon 2 of the BTK gene. Treatment with intravenous immunoglogulin was started." @default.
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- W3081953931 date "2020-01-01" @default.
- W3081953931 modified "2023-09-23" @default.
- W3081953931 title "Presentation of a case of Bruton type primary agammaglobulinemia in Guinea" @default.
- W3081953931 doi "https://doi.org/10.11604/pamj.2020.36.385.24771" @default.
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