ArticleThe Journal of clinical investigation2002
Clinical and molecular analysis of patients with defects in micro heavy chain gene.
Article in The Journal of clinical investigation, 2002. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 23 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
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.
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Who cites it
23 citing papers in PubMed, 60 citations in OpenAlex.
- A novel SPI1 variant (c.566T > C (p.Ile189Thr)) possibly associated with autosomal dominant agammaglobulinemia in a Chinese girl.BMC pediatrics · 2026Article
- Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report.Frontiers in medicine · 2026Article
- TACI and BTK gene analysis in predominantly antibody deficiencies among the primary immunodeficiency disorder patients in Bangladesh.Frontiers in medicine · 2025Article
- B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.Immunogenetics · 2024Article
- Core Fucosylation Regulates the Function of Pre-BCR, BCR and IgG in Humoral Immunity.Frontiers in immunology · 2022Review
- Update on Infections in Primary Antibody Deficiencies.Frontiers in immunology · 2021Review
- Primary B-cell immunodeficiencies.Human immunology · 2019Review
- Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.Genes and immunity · 2017Article
- Autosomal recessive agammaglobulinemia: the third case of Igβ deficiency due to a novel non-sense mutation.Journal of clinical immunology · 2014Article
- The genetic theory of infectious diseases: a brief history and selected illustrations.Annual review of genomics and human genetics · 2013Review
- Hyper IgM syndrome presenting as chronic suppurative lung disease.Italian journal of pediatrics · 2012Article
- Interleukin 12 receptor deficiency in a child with recurrent bronchopneumonia and very high IgE levels.Italian journal of pediatrics · 2012Article
- Core fucosylation of μ heavy chains regulates assembly and intracellular signaling of precursor B cell receptors.The Journal of biological chemistry · 2012Article
- Article
- Pre-B cell receptor signaling in acute lymphoblastic leukemia.Cell cycle (Georgetown, Tex.) · 2009Article
- Autosomal recessive agammaglobulinemia: novel insights from mutations in Ig-beta.Current allergy and asthma reports · 2008Review
- Gross deletions involving IGHM, BTK, or Artemis: a model for genomic lesions mediated by transposable elements.American journal of human genetics · 2008Article
- Molecular analysis of the pre-BCR complex in a large cohort of patients affected by autosomal-recessive agammaglobulinemia.Genes and immunity · 2007Article
- Immunity to microbes: lessons from primary immunodeficiencies.Infection and immunity · 2007Review
- The genetics of hypogammaglobulinemia.Current allergy and asthma reports · 2004Review
Corrections and comments
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Authors and funding
13 authors at 10 institutions in 5 countries.
Funding
Abstract
Autosomal recessive disorders of B cell development are rare and heterogeneous. To determine the proportion of affected patients who have defects in the micro heavy chain (IGHM) gene, we used single-stranded conformational polymorphism analysis to screen genomic DNA from 40 unrelated patients with early onset infections, profound hypogammaglobulinemia, and absent B cells. All of the patients were genotypically normal in BTK, the gene that underlies X-linked agammaglobulinemia. Eight different mutations in the micro heavy chain were identified in 19 members of 12 unrelated families. Four of the mutations were large deletions that removed more than 40 kb of DNA in the IGHM locus. In six of the 12 families, the affected patients had an identical single base pair substitution, a G-->A, at the -1 position of the alternative splice site. Immunoglobulin haplotype analysis showed that this mutation occurred on at least three different haplotypes, indicating that this is a hot spot for mutations. Compared with patients with mutations in Btk, patients with defects in the micro heavy chain had an earlier onset of disease and more complications. Our study indicates that at least 20-30% of patients with autosomal recessive defects in B cell development have mutations in the micro heavy chain.
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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.