Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia
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| Format: | Artículo científico |
| Langue: | en |
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Universidad del Valle
2019
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| author | Catalina Martínez-Jaramillo |
| author_facet | Catalina Martínez-Jaramillo |
| contents | Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia Catalina Martínez-Jaramillo Sebastian Gutierrez-Hincapie Julio César Orrego Arango Gloria María Vásquez-Duque Ruth María Erazo-Garnica Jose Luis Franco Claudia Milena Trujillo-Vargas Medicina LRBA Enteropathy Hypogammaglobulinemia Whole Exome Sequencing linked agammaglobulinemia Background: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in LRBA gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LRBA deficiency is immune dysregulation. Furthermore, hypogammaglobulinemia is found in more than half of patients with LRBA-deficiency. To date, no patients with this condition have been reported in ColombiaObjective: To evaluate the expression of the LRBA protein in patients from Colombia with clinical phenotype associated to LRBA-deficiency.Methods: In the present study the LRBA-expression in patients from Colombia with clinical phenotype associated to LRBA-deficiency was evaluated. After then, the clinical, the immunological characteristics and the possible genetic variants in LRBA or other genes associated with the immune system in patients that exhibit decrease protein expression was evaluated. Results: In total, 112 patients with different clinical manifestations associated to the clinical LRBA phenotype were evaluated. The LRBA expression varies greatly between different healthy donors and patients. Despite the great variability in the LRBA expression, six patients with a decrease in LRBA protein expression were observed. However, no pathogenic or possible pathogenic biallelic variants in LRBA, or in genes related with the immune system were found.Conclusion: LRBA expression varies greatly between different healthy donors and patients. Reduction LRBA-expression in 6 patients without homozygous mutations in LRBA or in associated genes with the immune system was observed. These results suggest the other genetic, epigenetic or environmental mechanisms, that might be regulated the LRBA-expression. 2019 artículo científico 0120-8322 https://www.redalyc.org/articulo.oa?id=28362904005 https://www.redalyc.org/journal/283/28362904005/ https://www.redalyc.org/journal/283/28362904005/html/ https://www.redalyc.org/journal/283/28362904005/28362904005.epub https://www.redalyc.org/journal/283/28362904005/movil 10.25100/cm.v50i3.3969 en http://www.redalyc.org/revista.oa?id=283 Colombia Médica application/pdf Universidad del Valle Colombia Médica (Colombia) Num.3 Vol.50 |
| format | Artículo científico |
| id | redalyc_28362904005 |
| institution | Redalyc |
| language | en |
| publishDate | 2019 |
| publisher | Universidad del Valle |
| spellingShingle | Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia Catalina Martínez-Jaramillo Medicina LRBA Enteropathy Hypogammaglobulinemia Whole Exome Sequencing linked agammaglobulinemia Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia Catalina Martínez-Jaramillo Sebastian Gutierrez-Hincapie Julio César Orrego Arango Gloria María Vásquez-Duque Ruth María Erazo-Garnica Jose Luis Franco Claudia Milena Trujillo-Vargas Medicina LRBA Enteropathy Hypogammaglobulinemia Whole Exome Sequencing linked agammaglobulinemia Background: LPS-responsive beige -like anchor protein (LRBA) deficiency is a primary immunodeficiency disease caused by loss of LRBA protein expression, due to biallelic mutations in LRBA gene. LRBA deficiency patients exhibit a clinically heterogeneous syndrome. The main clinical complication of LRBA deficiency is immune dysregulation. Furthermore, hypogammaglobulinemia is found in more than half of patients with LRBA-deficiency. To date, no patients with this condition have been reported in ColombiaObjective: To evaluate the expression of the LRBA protein in patients from Colombia with clinical phenotype associated to LRBA-deficiency.Methods: In the present study the LRBA-expression in patients from Colombia with clinical phenotype associated to LRBA-deficiency was evaluated. After then, the clinical, the immunological characteristics and the possible genetic variants in LRBA or other genes associated with the immune system in patients that exhibit decrease protein expression was evaluated. Results: In total, 112 patients with different clinical manifestations associated to the clinical LRBA phenotype were evaluated. The LRBA expression varies greatly between different healthy donors and patients. Despite the great variability in the LRBA expression, six patients with a decrease in LRBA protein expression were observed. However, no pathogenic or possible pathogenic biallelic variants in LRBA, or in genes related with the immune system were found.Conclusion: LRBA expression varies greatly between different healthy donors and patients. Reduction LRBA-expression in 6 patients without homozygous mutations in LRBA or in associated genes with the immune system was observed. These results suggest the other genetic, epigenetic or environmental mechanisms, that might be regulated the LRBA-expression. 2019 artículo científico 0120-8322 https://www.redalyc.org/articulo.oa?id=28362904005 https://www.redalyc.org/journal/283/28362904005/ https://www.redalyc.org/journal/283/28362904005/html/ https://www.redalyc.org/journal/283/28362904005/28362904005.epub https://www.redalyc.org/journal/283/28362904005/movil 10.25100/cm.v50i3.3969 en http://www.redalyc.org/revista.oa?id=283 Colombia Médica application/pdf Universidad del Valle Colombia Médica (Colombia) Num.3 Vol.50 |
| title | Clinical, immunological and genetic characteristic of patients with clinical phenotype associated to LRBA-deficiency in Colombia |
| topic | Medicina LRBA Enteropathy Hypogammaglobulinemia Whole Exome Sequencing linked agammaglobulinemia |
| url | https://www.redalyc.org/articulo.oa?id=28362904005 https://www.redalyc.org/journal/283/28362904005/ https://www.redalyc.org/journal/283/28362904005/html/ https://www.redalyc.org/journal/283/28362904005/28362904005.epub https://www.redalyc.org/journal/283/28362904005/movil |