| Autor: |
Kaba Condé, Hugues Ghislain Atakla, Mamadou Ciré Barry, Mohamed Lamine Condé, Malé Doré |
| Jazyk: |
English<br />French |
| Rok vydání: |
2020 |
| Předmět: |
|
| Zdroj: |
The Pan African Medical Journal, Vol 36, Iss 385 (2020) |
| Druh dokumentu: |
article |
| ISSN: |
1937-8688 |
| DOI: |
10.11604/pamj.2020.36.385.24771 |
| Popis: |
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. |
| Databáze: |
Directory of Open Access Journals |
| Externí odkaz: |
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