A mutation in the promoter region of BTK causes atypical XLA
| Autor: | Lucía del Pino Molina, Ana Méndez Echevarría, Eduardo López-Granados, María Bravo García-Morato, Juan Torres Canizales, Teresa del Rosal Rabes, Berta González Martínez, Rebeca Rodríguez Pena |
|---|---|
| Jazyk: | angličtina |
| Rok vydání: | 2020 |
| Předmět: |
0301 basic medicine
Proteomics XLA Primary immunodeficiencies Immunology Case Report medicine.disease_cause Hypogammaglobulinemia 03 medical and health sciences 0302 clinical medicine Antigen immune system diseases hemic and lymphatic diseases medicine Genetics Bruton's tyrosine kinase Flow cytometry lcsh:Social sciences (General) lcsh:Science (General) Immune disorder Diagnostics Mutation Multidisciplinary biology Promoter region Promoter medicine.disease qPCR 030104 developmental biology biology.protein Primary immunodeficiency lcsh:H1-99 Antibody Tyrosine kinase 030217 neurology & neurosurgery lcsh:Q1-390 |
| Zdroj: | Heliyon, Vol 6, Iss 9, Pp e04914-(2020) Heliyon |
| ISSN: | 2405-8440 |
| Popis: | X-linked Agammaglobulinemia is a primary immunodeficiency caused by mutations in BTK, a tyrosine kinase essential for B lymphocytes differentiation. Patients usually have very low or absent B lymphocytes and are not able to develop humoral specific responses. Here we present a boy, diagnosed with XLA due to a mutation on the promoter region of the gene, whose phenotype is characterised by low percentage of B cells, hypogammaglobulinemia, oscillating neutropenia, antibodies responses to some antigens after vaccination and IgE-mediated allergy. Additional technology as flow cytometry was needed to demonstrate the pathological status of the variant. We focus on the idea that XLA should be suspected in males with B lymphopenia and hypogammaglobulinemia, even if they make humoral specific responses. We also highlight the importance of sequencing BTK's promoter region, as mutations on it can be disease-causing. Genetics; Proteomics; Immunology; Immune disorder; Diagnostics; Primary immunodeficiencies; XLA; Promoter region; Flow cytometry; qPCR. |
| Databáze: | OpenAIRE |
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