ArticleImmunogenetics2011
Altered spectrum of somatic hypermutation in common variable immunodeficiency disease characteristic of defective repair of mutations.
Article in Immunogenetics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Impaired Response to Polysaccharide Vaccine in Selective IgE Deficiency.Journal of clinical immunology · 2023Article
- Progressive Depletion of B and T Lymphocytes in Patients with Ataxia Telangiectasia: Results of the Italian Primary Immunodeficiency Network.Journal of clinical immunology · 2022Article
- Members of the Regulatory Lymphocyte Club in Common Variable Immunodeficiency.Frontiers in immunology · 2022Review
- IL-21 and anti-CD40 restore Bcl-2 family protein imbalance in vitro in low-survival CD27Cell death & disease · 2018Article
- Identification of CVID Patients With Defects in Immune Repertoire Formation or Specification.Frontiers in immunology · 2018Article
- Somatic Hypermutation Defects in Common Variable Immune Deficiency.Current allergy and asthma reports · 2017Review
- IgH sequences in common variable immune deficiency reveal altered B cell development and selection.Science translational medicine · 2015Article
- Expression of activation-induced cytidine deaminase gene in B lymphocytes of patients with common variable immunodeficiency.Iranian journal of pediatrics · 2013Article
- Stabilised DNA secondary structures with increasing transcription localise hypermutable bases for somatic hypermutation in IGHV3-23.Immunogenetics · 2012Article
- Gene Conversion-Like Events in the Diversification of Human Rearranged IGHV3-23*01 Gene Sequences.Frontiers in immunology · 2012Article
- Mismatch-mediated error prone repair at the immunoglobulin genes.Biomedicine & pharmacotherapy = Biomedecine & pharmacotherapie · 2011Review
Corrections and comments
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Authors and funding
7 authors at 5 institutions in 2 countries.
Funding
Abstract
Pathogenic common variable immunodeficiency diseases (CVID) are genetic, usually inherited diseases for which a limited number of genetic defects have been implicated. As CVID presents with a wide range of clinical characteristics, there are likely diverse and for the most part unidentified genetic causes. In some individuals, defects in somatic hypermutation (SHM) have been suggested as the underlying cause of CVID. To address the mechanisms of SHM defects in CVID, we conducted a comprehensive mutational analysis of immunoglobulin heavy chain sequences from CVID patients. We identified several remarkably specific alterations in the spectra of SHM in comparison to healthy individuals. We provide evidence that some CVID cases are associated with defective repair of AID-induced mutations by the DNA mismatch repair (MMR) machinery. Our findings together with reports of increased chromosomal radiosensitivity and associated lymphoproliferative disorders amongst CVID patients, suggest that altered DNA damage repair may be a cause of CVID.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.