ArticleThe Journal of clinical investigation2003
Hyper-IgM syndrome type 4 with a B lymphocyte-intrinsic selective deficiency in Ig class-switch recombination.
Article in The Journal of clinical investigation, 2003. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 36 papers.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
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
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
36 citing papers in PubMed, 127 citations in OpenAlex.
- Deciphering B cell Maturation Dynamics in Hyper-IgM Syndromes.Journal of clinical immunology · 2026Article
- Immunoglobulin class-switch recombination: Mechanism, regulation, and related diseases.MedComm · 2024Review
- The off-target effects of AID in carcinogenesis.Frontiers in immunology · 2023Review
- Somatic hypermutation defects in two adult hyper immunoglobulin M patients.Immunologic research · 2022Article
- [Clinical effect of allogeneic hematopoietic stem cell transplantation in children with hyper-IgM syndrome].Zhongguo dang dai er ke za zhi = Chinese journal of contemporary pediatrics · 2022Article
- Repair of programmed DNA lesions in antibody class switch recombination: common and unique features.Genome instability & disease · 2021Review
- B Cell Disorders in Children: Part II.Current allergy and asthma reports · 2020Review
- Deficiency of activation-induced cytidine deaminase in a murine model of ulcerative colitis.PloS one · 2020Article
- No Overt Clinical Immunodeficiency Despite Immune Biological Abnormalities in Patients With Constitutional Mismatch Repair Deficiency.Frontiers in immunology · 2018Article
- Class-Switch Recombination (CSR)/Hyper-IgM (HIGM) Syndromes and Phosphoinositide 3-Kinase (PI3K) Defects.Frontiers in immunology · 2018Review
- Somatic Hypermutation Defects in Common Variable Immune Deficiency.Current allergy and asthma reports · 2017Review
- Novel and recurrent AID mutations underlie prevalent autosomal recessive form of HIGM in consanguineous patients.Immunogenetics · 2016Article
- Selective Subnormal IgG1 in 54 Adult Index Patients with Frequent or Severe Bacterial Respiratory Tract Infections.Journal of immunology research · 2016Article
- Murine germinal center B cells require functional Fms-like tyrosine kinase 3 signaling for IgG1 class-switch recombination.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
- ICON: the early diagnosis of congenital immunodeficiencies.Journal of clinical immunology · 2014Review
- The AID-induced DNA damage response in chromatin.Molecular cell · 2013Review
- Apurinic/apyrimidinic endonuclease 1 is the essential nuclease during immunoglobulin class switch recombination.Molecular and cellular biology · 2013Article
- Immunoglobulin class-switch recombination deficiencies.Arthritis research & therapy · 2012Review
- New frontiers of primary antibody deficiencies.Cellular and molecular life sciences : CMLS · 2012Review
- APOBEC3 proteins and genomic stability: the high cost of a good defense.Cell cycle (Georgetown, Tex.) · 2012Article
Corrections and comments
- Commented on by
Authors and funding
15 authors at 10 institutions in 7 countries.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hyper-IgM syndrome (HIGM) is a heterogeneous condition characterized by impaired Ig class-switch recombination (CSR). The molecular defects that have so far been associated with this syndrome - which affect the CD40 ligand in HIGM type 1 (HIGM1), CD40 in HIGM3, and activation-induced cytidine deaminase (AID) in HIGM2 - do not account for all cases. We investigated the clinical and immunological characteristics of 15 patients with an unidentified form of HIGM. Although the clinical manifestations were similar to those observed in HIGM2, these patients exhibited a slightly milder HIGM syndrome with residual IgG production. We found that B cell CSR was intrinsically impaired. However, the generation of somatic hypermutations was observed in the variable region of the Ig heavy chain gene, as in control B lymphocytes. In vitro studies showed that the molecular defect responsible for this new HIGM entity (HIGM4) occurs downstream of the AID activity, as the AID gene was induced normally and AID-induced DNA double-strand breaks in the switch micro region of the Ig heavy chain locus were detected during CSR as normal. Thus, HIGM4 is probably the consequence of a selective defect either in a CSR-specific factor of the DNA repair machinery or in survival signals delivered to switched B cells.
Indexed as
Identifiers
What OpenQuestion holds
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.