ArticleGenes and immunity2017
Autosomal recessive agammaglobulinemia due to defect in μ heavy chain caused by a novel mutation in the IGHM gene.
Article in Genes and immunity, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
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12 citing papers in PubMed, 25 citations in OpenAlex.
- Genetic mechanisms underlying host susceptibility to central nervous system viral infections.Current opinion in infectious diseases · 2026Review
- Alternative splicing and polyadenylation facilitate transcriptome diversity underlying high-altitude adaptation in pigs.Communications biology · 2026Article
- Autosomal recessive agammaglobulinemia due to compound heterozygous IGHM alterations identified: a case report.Frontiers in medicine · 2026Article
- Mapping the spatial atlas of the human bone tissue integrating spatial and single-cell transcriptomics.Nucleic acids research · 2025Article
- Immunogenic Cell Death Genes Related Prognostic Biomarker in Hepatocellular Carcinoma.Oncology research · 2025Article
- A human gutScience (New York, N.Y.) · 2024Article
- B-cells absence in patients diagnosed as inborn errors of immunity: a registry-based study.Immunogenetics · 2024Article
- Analysis of the differential expression and prognostic relationship of DEGs in AML based on TCGA database.European journal of medical research · 2023Article
- iTRAQ-based quantitative proteomics analysis of immune thrombocytopenia patients before and after Qishunbaolier treatment.Rapid communications in mass spectrometry : RCM · 2021Article
- Update on Infections in Primary Antibody Deficiencies.Frontiers in immunology · 2021Review
- B Cell Disorders in Children-Part I.Current allergy and asthma reports · 2020Review
- SDHA gain-of-function engages inflammatory mitochondrial retrograde signaling via KEAP1-Nrf2.Nature immunology · 2019Article
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Agammaglobulinemia is a primary immunodeficiency disorder characterized by profoundly low or absent serum antibodies and low or absent circulating B cells. The most common form is X-linked agammaglobulinemia (XLA) caused by mutations in BTK gene. The remaining cases, clinically similar to XLA, are autosomal recessive agammaglobulinemia (ARA). Nearly 30% of ARA cases present mutations in the μ heavy constant region gene IGHM. Here, we present a 7-month-old patient, born from non-consanguineous parents, who is affected by ARA due to defect in the μ heavy chain. The genetic study showed that the patient is compound heterozygous for an IGHM gene deletion and the novel nonsense mutation X57331.1:g.275C>A (p.Tyr43*) (ClinVar Accession Number: SCV000537868.1). This finding allows for an adequate genetic counseling to the family and also broadens the spectrum of already described point mutations at this locus. The IGHM gene is very complex and it is likely that yet unidentified mutations appear in other patients.
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