Presentation of a case of Bruton type primary agammaglobulinemia in Guinea

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 ot...

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Detalles Bibliográficos
Autores principales: Condé, Kaba, Atakla, Hugues Ghislain, Barry, Mamadou Ciré, Condé, Mohamed Lamine, Doré, Malé
Formato: Online Artículo Texto
Lenguaje:English
Publicado: The African Field Epidemiology Network 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7666687/
https://www.ncbi.nlm.nih.gov/pubmed/33235662
http://dx.doi.org/10.11604/pamj.2020.36.385.24771
Descripción
Sumario: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.

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