Somatic Hypermutation Defects in Common Variable Immune Deficiency
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In the last 20 years, several groups have reported that B cells from CVID patients have an impaired somatic hypermutation (SHM). The reported frequency of this...
| Publicado: |
2017
|
|---|---|
| Materias: | |
| Acceso en línea: | https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15297322_v17_n11_p_Almejun http://hdl.handle.net/20.500.12110/paper_15297322_v17_n11_p_Almejun |
| Aporte de: |
| id |
paper:paper_15297322_v17_n11_p_Almejun |
|---|---|
| record_format |
dspace |
| spelling |
paper:paper_15297322_v17_n11_p_Almejun2023-06-08T16:19:41Z Somatic Hypermutation Defects in Common Variable Immune Deficiency Clinical complications CSR CVID IgV SHM B lymphocyte cell population common variable immunodeficiency disease association disease course disease severity genetic association genetic disorder human infection risk infectious complication memory cell nonhuman respiratory tract infection Review somatic hypermutation animal common variable immunodeficiency genetic heterogeneity genetic predisposition genetics immunology mutation nucleotide sequence somatic hypermutation Animals B-Lymphocytes Base Sequence Common Variable Immunodeficiency Genetic Heterogeneity Genetic Predisposition to Disease Humans Mutation Somatic Hypermutation, Immunoglobulin Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In the last 20 years, several groups have reported that B cells from CVID patients have an impaired somatic hypermutation (SHM). The reported frequency of this defect among CVID patient cohorts is highly variable and so is the methodology used to evaluate this process. Interestingly, the low level of SHM on B cells from CVID patients has been correlated with the presence of infectious and non-infectious complications. In this review, an overview of the studies regarding SHM in CVID patients is presented. We highlight the importance of SHM studies in CVID patients as a clinical tool due to the reported association with clinical complications by several groups. We also considered SHM measurement useful to guide future investigations in order to identify genetic defects involved in the development of the disease. © 2017, Springer Science+Business Media, LLC. 2017 https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15297322_v17_n11_p_Almejun http://hdl.handle.net/20.500.12110/paper_15297322_v17_n11_p_Almejun |
| institution |
Universidad de Buenos Aires |
| institution_str |
I-28 |
| repository_str |
R-134 |
| collection |
Biblioteca Digital - Facultad de Ciencias Exactas y Naturales (UBA) |
| topic |
Clinical complications CSR CVID IgV SHM B lymphocyte cell population common variable immunodeficiency disease association disease course disease severity genetic association genetic disorder human infection risk infectious complication memory cell nonhuman respiratory tract infection Review somatic hypermutation animal common variable immunodeficiency genetic heterogeneity genetic predisposition genetics immunology mutation nucleotide sequence somatic hypermutation Animals B-Lymphocytes Base Sequence Common Variable Immunodeficiency Genetic Heterogeneity Genetic Predisposition to Disease Humans Mutation Somatic Hypermutation, Immunoglobulin |
| spellingShingle |
Clinical complications CSR CVID IgV SHM B lymphocyte cell population common variable immunodeficiency disease association disease course disease severity genetic association genetic disorder human infection risk infectious complication memory cell nonhuman respiratory tract infection Review somatic hypermutation animal common variable immunodeficiency genetic heterogeneity genetic predisposition genetics immunology mutation nucleotide sequence somatic hypermutation Animals B-Lymphocytes Base Sequence Common Variable Immunodeficiency Genetic Heterogeneity Genetic Predisposition to Disease Humans Mutation Somatic Hypermutation, Immunoglobulin Somatic Hypermutation Defects in Common Variable Immune Deficiency |
| topic_facet |
Clinical complications CSR CVID IgV SHM B lymphocyte cell population common variable immunodeficiency disease association disease course disease severity genetic association genetic disorder human infection risk infectious complication memory cell nonhuman respiratory tract infection Review somatic hypermutation animal common variable immunodeficiency genetic heterogeneity genetic predisposition genetics immunology mutation nucleotide sequence somatic hypermutation Animals B-Lymphocytes Base Sequence Common Variable Immunodeficiency Genetic Heterogeneity Genetic Predisposition to Disease Humans Mutation Somatic Hypermutation, Immunoglobulin |
| description |
Common variable immunodeficiency (CVID) is a heterogeneous disorder characterized by impaired antibody production and recurrent infections. In the last 20 years, several groups have reported that B cells from CVID patients have an impaired somatic hypermutation (SHM). The reported frequency of this defect among CVID patient cohorts is highly variable and so is the methodology used to evaluate this process. Interestingly, the low level of SHM on B cells from CVID patients has been correlated with the presence of infectious and non-infectious complications. In this review, an overview of the studies regarding SHM in CVID patients is presented. We highlight the importance of SHM studies in CVID patients as a clinical tool due to the reported association with clinical complications by several groups. We also considered SHM measurement useful to guide future investigations in order to identify genetic defects involved in the development of the disease. © 2017, Springer Science+Business Media, LLC. |
| title |
Somatic Hypermutation Defects in Common Variable Immune Deficiency |
| title_short |
Somatic Hypermutation Defects in Common Variable Immune Deficiency |
| title_full |
Somatic Hypermutation Defects in Common Variable Immune Deficiency |
| title_fullStr |
Somatic Hypermutation Defects in Common Variable Immune Deficiency |
| title_full_unstemmed |
Somatic Hypermutation Defects in Common Variable Immune Deficiency |
| title_sort |
somatic hypermutation defects in common variable immune deficiency |
| publishDate |
2017 |
| url |
https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_15297322_v17_n11_p_Almejun http://hdl.handle.net/20.500.12110/paper_15297322_v17_n11_p_Almejun |
| _version_ |
1768543053727924224 |