ArticleThe Journal of experimental medicine2007
A primary immunodeficiency characterized by defective immunoglobulin class switch recombination and impaired DNA repair.
Article in The Journal of experimental medicine, 2007. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 papers.
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Who cites it
18 citing papers in PubMed, 53 citations in OpenAlex.
- Unique chicken B cell development: species-specific mechanisms and contradictory requirements of B cell receptor for post-hatched B cell development.Frontiers in immunology · 2026Review
- Pediatric selective IgM deficiency: clinical features and a preliminary risk index for immunoglobulin replacement therapy.Immunologic research · 2025Article
- Investigating Chromosomal Radiosensitivity in Inborn Errors of Immunity: Insights from DNA Repair Disorders and Beyond.Journal of clinical immunology · 2025Article
- Gallic acid in theabrownin suppresses cell proliferation and migration in non‑small cell lung carcinoma via autophagy inhibition.Oncology letters · 2023Article
- Altered abundances of human immunoglobulin M and immunoglobulin G subclasses in Alzheimer's disease frontal cortex.Scientific reports · 2022Article
- AID Phosphorylation Regulates Mismatch Repair-Dependent Class Switch Recombination and Affinity Maturation.Journal of immunology (Baltimore, Md. : 1950) · 2020Article
- No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.Frontiers in immunology · 2018Article
- Somatic Hypermutation Defects in Common Variable Immune Deficiency.Current allergy and asthma reports · 2017Review
- Hyper IgM syndrome presenting as chronic suppurative lung disease.Italian journal of pediatrics · 2012Article
- Immunoglobulin class-switch recombination deficiencies.Arthritis research & therapy · 2012Review
- New frontiers of primary antibody deficiencies.Cellular and molecular life sciences : CMLS · 2012Review
- Update on the hyper immunoglobulin M syndromes.British journal of haematology · 2010Review
- Phenotypic variations between affected siblings with ataxia-telangiectasia: ataxia-telangiectasia in Japan.International journal of hematology · 2009Article
- Non-homologous end joining in class switch recombination: the beginning of the end.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2009Review
- Immunoglobulin class switch recombination: study through human natural mutants.Philosophical transactions of the Royal Society of London. Series B, Biological sciences · 2009Article
- Involvement of Artemis in nonhomologous end-joining during immunoglobulin class switch recombination.The Journal of experimental medicine · 2008Article
- Human PMS2 deficiency is associated with impaired immunoglobulin class switch recombination.The Journal of experimental medicine · 2008Article
- V(D)J and immunoglobulin class switch recombinations: a paradigm to study the regulation of DNA end-joining.Oncogene · 2007Review
Corrections and comments
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Authors and funding
13 authors at 9 institutions in 5 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Immunoglobulin class switch recombination (CSR) deficiencies are rare primary immunodeficiencies, characterized by a lack of switched isotype (IgG, IgA, or IgE) production, variably associated with abnormal somatic hypermutation (SHM). Deficiencies in CD40 ligand, CD40, activation-induced cytidine deaminase, and uracil-N-glycosylase may account for this syndrome. We previously described another Ig CSR deficiency condition, characterized by a defect in CSR downstream of the generation of double-stranded DNA breaks in switch (S) mu regions. Further analysis performed with the cells of five affected patients showed that the Ig CSR deficiency was associated with an abnormal formation of the S junctions characterized by microhomology and with increased cell radiosensitivity. In addition, SHM was skewed toward transitions at G/C residues. Overall, these findings suggest that a unique Ig CSR deficiency phenotype could be related to an as-yet-uncharacterized defect in a DNA repair pathway involved in both CSR and SHM events.
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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.