Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency
Introduction. Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucid...
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Instituto Nacional de Salud
2024-12-01
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| Series: | Biomédica: revista del Instituto Nacional de Salud |
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| Online Access: | https://revistabiomedica.org/index.php/biomedica/article/view/7636 |
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| author | Sebastián Gutiérrez-Hincapié Julio César Orrego José Luis Franco Claudia M. Trujillo-Vargas |
| author_facet | Sebastián Gutiérrez-Hincapié Julio César Orrego José Luis Franco Claudia M. Trujillo-Vargas |
| author_sort | Sebastián Gutiérrez-Hincapié |
| collection | DOAJ |
| description | Introduction. Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections,
hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades.
Objective. To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency.
Materials and methods. The clinical phenotype was extracted from the clinical records. NKG2D expression in natural killer cells was evaluated by flow cytometry. The whole exome sequencing was performed in the patient and his parents. Sanger sequencing confirmed the pathogenic variant.
Results. The patient suffered from upper respiratory and urinary tract infections, autoimmune hemolytic anemia, and hepatopathy. NKG2D was decreased in the different
blood subpopulations of natural killer cells. Serologic and viral load studies for Epstein-Barr virus were positive, but no B-cell malignancies have been documented. The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C>T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). The mother also carried the pathogenic variant in a heterozygous state.
Conclusions. We report the clinical case of the first Colombian male patient with a pathogenic variant in MAGT1 associated with XMEN disease. Genetic counseling and followup are recommended for families with similar cases to allow prompt detection of new cases. |
| format | Article |
| id | doaj-art-b9f5d8f7598345cc8a0272b56f0c43c8 |
| institution | Kabale University |
| issn | 0120-4157 |
| language | English |
| publishDate | 2024-12-01 |
| publisher | Instituto Nacional de Salud |
| record_format | Article |
| series | Biomédica: revista del Instituto Nacional de Salud |
| spelling | doaj-art-b9f5d8f7598345cc8a0272b56f0c43c82025-01-21T18:56:10ZengInstituto Nacional de SaludBiomédica: revista del Instituto Nacional de Salud0120-41572024-12-0144Sp. 2394710.7705/biomedica.76369091Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiencySebastián Gutiérrez-Hincapié0https://orcid.org/0000-0002-1576-595XJulio César Orrego1https://orcid.org/0000-0002-3809-9187José Luis Franco2https://orcid.org/0000-0001-5664-6415Claudia M. Trujillo-Vargas3https://orcid.org/0000-0001-8546-2666Grupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, ColombiaGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, ColombiaGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, ColombiaGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, ColombiaGrupo de Inmunodeficiencias Primarias, Facultad de Medicina, Universidad de Antioquia, Medellín, ColombiaIntroduction. Common variable immunodeficiency is a diagnosis of exclusion in immunodeficient patients with increased susceptibility to infections, hypogammaglobulinemia, deficient response to vaccination, or low percentages of switched memory B cells. In low- and middle-income countries, the elucidation and study of molecular defects in these patients may take decades. Objective. To elucidate the genetic defect conferring impaired immunity in a patient diagnosed with common variable immunodeficiency. Materials and methods. The clinical phenotype was extracted from the clinical records. NKG2D expression in natural killer cells was evaluated by flow cytometry. The whole exome sequencing was performed in the patient and his parents. Sanger sequencing confirmed the pathogenic variant. Results. The patient suffered from upper respiratory and urinary tract infections, autoimmune hemolytic anemia, and hepatopathy. NKG2D was decreased in the different blood subpopulations of natural killer cells. Serologic and viral load studies for Epstein-Barr virus were positive, but no B-cell malignancies have been documented. The patient presented a nonsense variant in the exon 3 of the MAGT1 gen (c.409C>T, rs387906724) in the X chromosome, resulting in an amino acid substitution of arginine for a stop codon in the position 137 of the protein (R137X). The mother also carried the pathogenic variant in a heterozygous state. Conclusions. We report the clinical case of the first Colombian male patient with a pathogenic variant in MAGT1 associated with XMEN disease. Genetic counseling and followup are recommended for families with similar cases to allow prompt detection of new cases.https://revistabiomedica.org/index.php/biomedica/article/view/7636common variable immunodeficiencyherpesvirus type 4, humanprimary immunodeficiency diseases |
| spellingShingle | Sebastián Gutiérrez-Hincapié Julio César Orrego José Luis Franco Claudia M. Trujillo-Vargas Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency Biomédica: revista del Instituto Nacional de Salud common variable immunodeficiency herpesvirus type 4, human primary immunodeficiency diseases |
| title | Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency |
| title_full | Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency |
| title_fullStr | Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency |
| title_full_unstemmed | Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency |
| title_short | Loss-of-function variant in MAGT1 leading to XMEN disease in a Colombian patient with a common variable immunodeficiency |
| title_sort | loss of function variant in magt1 leading to xmen disease in a colombian patient with a common variable immunodeficiency |
| topic | common variable immunodeficiency herpesvirus type 4, human primary immunodeficiency diseases |
| url | https://revistabiomedica.org/index.php/biomedica/article/view/7636 |
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