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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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
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author Condé, Kaba
Atakla, Hugues Ghislain
Barry, Mamadou Ciré
Condé, Mohamed Lamine
Doré, Malé
author_facet Condé, Kaba
Atakla, Hugues Ghislain
Barry, Mamadou Ciré
Condé, Mohamed Lamine
Doré, Malé
author_sort Condé, Kaba
collection PubMed
description 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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spelling pubmed-76666872020-11-23 Presentation of a case of Bruton type primary agammaglobulinemia in Guinea Condé, Kaba Atakla, Hugues Ghislain Barry, Mamadou Ciré Condé, Mohamed Lamine Doré, Malé Pan Afr Med J Case Report 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. The African Field Epidemiology Network 2020-08-31 /pmc/articles/PMC7666687/ /pubmed/33235662 http://dx.doi.org/10.11604/pamj.2020.36.385.24771 Text en Copyright: Kaba Condé et al. https://creativecommons.org/licenses/by/4.0 The Pan African Medical Journal (ISSN: 1937-8688). This is an Open Access article distributed under the terms of the Creative Commons Attribution International 4.0 License (https://creativecommons.org/licenses/by/4.0/), which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Report
Condé, Kaba
Atakla, Hugues Ghislain
Barry, Mamadou Ciré
Condé, Mohamed Lamine
Doré, Malé
Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
title Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
title_full Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
title_fullStr Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
title_full_unstemmed Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
title_short Presentation of a case of Bruton type primary agammaglobulinemia in Guinea
title_sort presentation of a case of bruton type primary agammaglobulinemia in guinea
topic Case Report
url 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
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